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Gene: Ankfy1 MGI:1337008

Gene Summary

Name:

ankyrin repeat and FYVE domain containing 1

Synonyms:

Ankhzn

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal heart morphology	Ankfy1^{tm1b(KOMP)Mbp}	HET	Early adult	0.00
preweaning lethality, complete penetrance	Ankfy1^{tm1b(KOMP)Mbp}	HOM	Early adult	0.00
hydrometra	Ankfy1^{tm1b(KOMP)Mbp}	HET	Early adult	0.00
increased monocyte cell number	Ankfy1^{tm1b(KOMP)Mbp}	HET	Early adult	1.40×10^-05
embryonic lethality prior to tooth bud stage	Ankfy1^{tm1b(KOMP)Mbp}	HOM	E12.5	0.00
enlarged heart	Ankfy1^{tm1b(KOMP)Mbp}	HET	Early adult	0.00
embryonic lethality prior to organogenesis	Ankfy1^{tm1b(KOMP)Mbp}	HOM	E9.5	0.00
small superior vagus ganglion	Ankfy1^{tm1b(KOMP)Mbp}	HET	Early adult	0.00

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	heterozygote	100% (2 of 2)
Aorta	N/A	heterozygote	50% (1 of 2)
Blood	N/A	heterozygote	0.0% (0 of 2)
Bone marrow	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	50% (1 of 2)
Cartilage tissue	N/A	heterozygote	Not available
Cecum	N/A	heterozygote	100% (2 of 2)
Cerebellum	N/A	heterozygote	100% (2 of 2)
Cerebral cortex	N/A	heterozygote	Not available
Chest bone	N/A	heterozygote	Not available
Colon	N/A	heterozygote	100% (2 of 2)
Diaphragm	N/A	heterozygote	0.0% (0 of 2)
Duodenum	N/A	heterozygote	50% (1 of 2)
Epididymis	N/A	heterozygote	50% (1 of 2)
Esophagus	N/A	heterozygote	100% (2 of 2)
Eye	N/A	heterozygote	100% (2 of 2)
Gall bladder	N/A	heterozygote	Not available
Gonadal fat pad	N/A	heterozygote	50% (1 of 2)
Harderian gland	N/A	heterozygote	100% (2 of 2)
Heart	N/A	heterozygote	Not available
Hindlimb	N/A	heterozygote	Not available
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Ileum	N/A	heterozygote	100% (2 of 2)
Jejunum	N/A	heterozygote	Not available
Kidney	N/A	heterozygote	100% (2 of 2)
Large intestine	N/A	heterozygote	100% (2 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	Not available
Lung	N/A	heterozygote	100% (2 of 2)
Lymph node	N/A	heterozygote	Not available
Mammary gland	N/A	heterozygote	50% (1 of 2)
Mesenteric adipose tissue	N/A	heterozygote	50% (1 of 2)
Mesenteric lymph node	N/A	heterozygote	0.0% (0 of 2)
Midbrain	N/A	heterozygote	100% (2 of 2)
Olfactory lobe	N/A	heterozygote	100% (2 of 2)
Ovary	N/A	heterozygote	Not available
Oviduct	N/A	heterozygote	50% (1 of 2)
Pancreas	N/A	heterozygote	100% (2 of 2)
Parathyroid gland	N/A	heterozygote	50% (1 of 2)
Parotid gland	N/A	heterozygote	50% (1 of 2)
Penis	N/A	heterozygote	50% (1 of 2)
Peripheral nervous system	N/A	heterozygote	Not available
Peyer's patch	N/A	heterozygote	Not available
Pituitary gland	N/A	heterozygote	100% (2 of 2)
Prostate gland	N/A	heterozygote	50% (1 of 2)
Quadriceps	N/A	heterozygote	50% (1 of 2)
Sciatic nerve	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	Not available
Skin	N/A	heterozygote	100% (2 of 2)
Small intestine	N/A	heterozygote	100% (2 of 2)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Spleen	N/A	heterozygote	100% (2 of 2)
Stomach pyloric region	N/A	heterozygote	Not available
Stomach	N/A	heterozygote	100% (2 of 2)
Striatum	N/A	heterozygote	Not available
Sublingual gland	N/A	heterozygote	50% (1 of 2)
Submandibular gland	N/A	heterozygote	100% (2 of 2)
Testis	N/A	heterozygote	50% (1 of 2)
Thymus	N/A	heterozygote	50% (1 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Tongue	N/A	heterozygote	100% (2 of 2)
Trachea	N/A	heterozygote	100% (2 of 2)
Trigeminal V nerve	N/A	heterozygote	100% (2 of 2)
Urinary bladder	N/A	heterozygote	100% (2 of 2)
Uterus	N/A	heterozygote	50% (1 of 2)
Vagina	N/A	heterozygote	50% (1 of 2)
Vas deferens	N/A	heterozygote	50% (1 of 2)
Vascular system	N/A	heterozygote	Not available
Vesicular gland	N/A	heterozygote	50% (1 of 2)
White adipose tissue	N/A	heterozygote	Not available

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Axial skeleton	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Central nervous system ganglion	N/A	heterozygote	100% (2 of 2)
Ear	N/A	heterozygote	100% (2 of 2)
Embryo	N/A	heterozygote	100% (2 of 2)
Eye	N/A	heterozygote	100% (2 of 2)
Footplate	N/A	heterozygote	0.0% (0 of 2)
Forebrain	N/A	heterozygote	100% (2 of 2)
Forelimb	N/A	heterozygote	100% (2 of 2)
Gut	N/A	heterozygote	100% (2 of 2)
Handplate	N/A	heterozygote	0.0% (0 of 2)
Head	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	100% (2 of 2)
Hindbrain	N/A	heterozygote	100% (2 of 2)
Hindlimb	N/A	heterozygote	100% (2 of 2)
Liver	N/A	heterozygote	100% (2 of 2)
Lung	N/A	heterozygote	100% (2 of 2)
Mandibular process	N/A	heterozygote	Ambiguous
Maxillary process	N/A	heterozygote	Ambiguous
Midbrain	N/A	heterozygote	100% (2 of 2)
Oral cavity	N/A	heterozygote	Ambiguous
Skeleton	N/A	heterozygote	100% (2 of 2)
Skin	N/A	heterozygote	100% (2 of 2)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Tail somite	N/A	heterozygote	100% (2 of 2)
Tail	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	100% (2 of 2)
Urinary system	N/A	heterozygote	100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
blood
bone marrow
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cecum	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
chest bone
colon
diaphragm	0.0%
duodenum	0.0%
epididymis	Unavailable
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
gonadal fat pad	0.0%
harderian gland
heart	0.0%
hindlimb	0.0%
hippocampus	0.0%
hypothalamus	0.0%
ileum	0.0%
jejunum
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
mesenteric adipose tissue	0.0%
mesenteric lymph node
midbrain	0.0%
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
parotid gland	0.0%
penis	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
quadriceps	0.0%
sciatic nerve	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
stomach pyloric region	0.0%
striatum	0.0%
sublingual gland	0.0%
submandibular gland	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
tongue	0.0%
trachea	0.0%
trigeminal v nerve	0.0%
urinary bladder
uterus	0.0%
vagina	0.0%
vas deferens	Unavailable
vascular system	0.0%
vesicular gland	Unavailable
white adipose tissue	0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
axial skeleton	Ambiguous
brain	0.0%
central nervous system ganglion	Ambiguous
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
gut	Ambiguous
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
oral cavity	0.0%
skeleton	Ambiguous
skin	0.0%
spinal cord	Ambiguous
tail	0.0%
tail somite group	0.0%
trachea	Ambiguous
urinary system	Ambiguous

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Adult LacZ

LacZ Images Section

129 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Embryo LacZ

LacZ images wholemount

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Gross Morphology Embryo E9.5

Images

3 Images

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Human diseases caused by Ankfy1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Ankfy1 (1 diseases)
Human diseases predicted to be associated with Ankfy1 (1225 diseases)

The table below shows human diseases associated to Ankfy1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Genetic Steroid-Resistant Nephrotic Syndrome			ORPHA:656

The table below shows human diseases predicted to be associated to Ankfy1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Hypotonia, Tremor, Cerebellar hypoplasia, Ataxia, Scoliosis	OMIM:213000
Spinocerebellar Ataxia, Autosomal Recessive 2	Spasticity, Generalized hypotonia, Incoordination, Cerebellar vermis atrophy, Dilated fourth vent...	OMIM:213200
Spinocerebellar Ataxia 43	Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor,...	OMIM:617018
Spinocerebellar Ataxia Type 31	Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Gait ataxia, Tremor	ORPHA:217012
Spastic Paraplegia 62, Autosomal Recessive	Spasticity, Tip-toe gait, Fasciculations, Difficulty walking, Abnormal cerebellum morphology, Tho...	OMIM:615681
Spinocerebellar Ataxia 17	Broad-based gait, Cerebellar atrophy, Chorea, Limb ataxia, Positive Romberg sign, Gait ataxia, Dy...	OMIM:607136
Spinocerebellar Ataxia 37	Cerebellar atrophy, Tremor, Ataxia, Unsteady gait, Frequent falls	OMIM:615945
Huntington Disease	Cerebellar atrophy, Chorea, Gait ataxia, Rigidity, Gliosis, Neuronal loss in central nervous syst...	OMIM:143100
Spinocerebellar Ataxia Type 38	Cerebellar atrophy, Somatic sensory dysfunction, Difficulty walking, Gait ataxia, Tremor	ORPHA:423296
Episodic Ataxia, Type 1	Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech	OMIM:160120
Spinocerebellar Ataxia 40	Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ankle cl...	OMIM:616053
Autosomal Spastic Paraplegia Type 30	Diffuse cerebellar atrophy, Somatic sensory dysfunction, Progressive spastic paraplegia, Distal s...	ORPHA:101010
Spinocerebellar Ataxia, Autosomal Recessive 27	Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Gait imbalance, Gait ataxia, Spastic a...	OMIM:618369
Optic Atrophy 2	Babinski sign, Dysdiadochokinesis, Tremor	OMIM:311050
Spinocerebellar Ataxia Type 15/16	Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ...	ORPHA:98769
Cerebellar Ataxia, Cayman Type	Broad-based gait, Generalized hypotonia, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Nonp...	ORPHA:94122
Autosomal Recessive Spastic Paraplegia Type 32	Progressive spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower lim...	ORPHA:171622
Spinocerebellar Ataxia Type 37	Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb d...	ORPHA:363710
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia	OMIM:613227
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4	Cerebral cortical atrophy, Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Cerebe...	OMIM:615268
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Broad-based gait, Spasticity, Cerebellar atrophy, Generalized hypotonia, Difficulty walking, Cere...	ORPHA:284332
Spastic Paraplegia 18B, Autosomal Recessive	Spastic paraplegia, Inability to walk, Ankle clonus, Babinski sign, Lower limb spasticity, Gait d...	OMIM:611225
Spinocerebellar Ataxia, Autosomal Recessive 16	Spasticity, Cerebellar atrophy, Limb ataxia, Tremor, Ankle clonus, Cerebellar hypoplasia, Babinsk...	OMIM:615768
Spastic Paraplegia 32, Autosomal Recessive	Spastic paraplegia, Cerebellar atrophy, Cerebral atrophy, Difficulty walking, Ankle clonus, Babin...	OMIM:611252
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I	Ataxia, Spasticity, Cerebellar atrophy, Chiari type I malformation, Babinski sign, Impaired dista...	OMIM:619742
Leukoencephalopathy, Brain Calcifications, And Cysts	Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ...	OMIM:614561
Cerebral Palsy, Ataxic, Autosomal Recessive	Broad-based gait, Cerebellar atrophy, Dysdiadochokinesis, Cerebral palsy	OMIM:605388
Spinocerebellar Ataxia 41	Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait	OMIM:616410
Spinocerebellar Ataxia 38	Cerebellar vermis atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Atrophy/Degeneration affe...	OMIM:615957
Ethanolaminosis	Cardiomegaly	OMIM:227150
X-Linked Non Progressive Cerebellar Ataxia	Cerebellar vermis hypoplasia, Generalized neonatal hypotonia, Action tremor, Cerebellar hypoplasi...	ORPHA:314978
Spinocerebellar Ataxia 35	Cerebellar atrophy, Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss o...	OMIM:613908
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Spasticity, Cerebellar atrophy, Cerebral atrophy, Infantile axial hypotonia, Tremor, Ankle clonus...	ORPHA:521406
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction	Cerebellar atrophy, Inability to walk, Hypotonia, Appendicular hypotonia, Ataxia	OMIM:619333
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Spasticity, Shuffling gait, Global brain atrophy, Somatic sensory dysfunction, Rigidity, Parkinso...	OMIM:221820
Episodic Ataxia With Slurred Speech	Gait ataxia, Tremor, Slurred speech	ORPHA:401953
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Hypotonia, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait	OMIM:617917
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Global brain atrophy, Cerebellar atrophy, Aplasia of the inferior half of the c...	OMIM:610185
Spastic Paraplegia 46, Autosomal Recessive	Impaired vibratory sensation, Spastic paraplegia, Cerebellar atrophy, Hand tremor, Cerebral atrop...	OMIM:614409
Spinocerebellar Ataxia Type 35	Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetr...	ORPHA:276193
Spinocerebellar Ataxia, Autosomal Recessive 4	Spasticity, Cerebellar atrophy, Fasciculations, Gait ataxia, Myoclonus, Tremor, Babinski sign, Ab...	OMIM:607317
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Postural tremor, Abnormal cerebellum morpholo...	ORPHA:98762
Pontocerebellar Hypoplasia, Type 4	Loss of Purkinje cells in the cerebellar vermis, Spasticity, Hypoplasia of the pons, Myoclonus, C...	OMIM:225753
Spinocerebellar Ataxia, Autosomal Recessive 22	Cerebellar atrophy, Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal at...	OMIM:616948
Migraine, Familial Hemiplegic, 1	Cerebellar atrophy, Hemiplegia, Tremor, Hemiparesis, Ataxia	OMIM:141500
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy...	OMIM:610245
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Paralysis, Gliosis, Dystonia, Athetosis	OMIM:300857
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Generalized hypotonia, Cerebellar vermis atrophy, Limb ataxia, Myocl...	ORPHA:98763
Spinocerebellar Ataxia, Autosomal Recessive 6	Spasticity, Cerebellar atrophy, Generalized hypotonia, Hypotonia, Gait ataxia, Dysmetria, Clumsin...	OMIM:608029
Spinocerebellar Ataxia, X-Linked 1	Cerebellar atrophy, Neonatal hypotonia, Hypotonia, Action tremor, Abnormality of extrapyramidal m...	OMIM:302500
Spinocerebellar Ataxia, Autosomal Recessive 24	Spastic gait, Limb ataxia, Gait ataxia, Cerebellar atrophy	OMIM:617133
Neurodevelopmental Disorder With Motor Regression, Progressive Spastic Paraplegia, And Oromotor Dysfunction	Spasticity, Cerebellar atrophy, Cerebral atrophy, Dystonia, Gait disturbance, Spastic tetraparesis	OMIM:620515
Spinocerebellar Ataxia Type 5	Incoordination, Gait disturbance, Cerebellar atrophy, Slurred speech	ORPHA:98766
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ...	OMIM:202700
Epilepsy, Progressive Myoclonic 7	Cerebellar atrophy, Myoclonus, Tremor, Ataxia	OMIM:616187
Spinocerebellar Ataxia 45	Limb ataxia, Gait ataxia, Cerebellar atrophy	OMIM:617769
Spinocerebellar Ataxia 18	Cerebellar atrophy, Tremor, Dysmetria, Progressive gait ataxia, Babinski sign, Dysdiadochokinesis	OMIM:607458
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Babinski sign, Spasticity, Tremor, Ataxia	OMIM:611105
Spinocerebellar Ataxia Type 20	Upper limb postural tremor, Cerebellar atrophy, Bradykinesia, Laryngeal dystonia, Gait ataxia, Ab...	ORPHA:101110
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hand tremor, Fasciculations, Distal sensory impairment, Axonal degeneration, Gait disturbance, Te...	OMIM:604484
Huntington Disease-Like 1	Cerebral cortical atrophy, Involuntary movements, Cerebellar atrophy, Generalized hypotonia, Inco...	ORPHA:157941
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Spastic Ataxia 2, Autosomal Recessive	Spasticity, Cerebellar atrophy, Cerebral atrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor,...	OMIM:611302
Dystonia With Cerebellar Atrophy	Cerebellar atrophy, Craniofacial dystonia, Torticollis, Dystonia, Progressive cerebellar ataxia	OMIM:611694
Autosomal Recessive Spastic Paraplegia Type 67	Cerebral cortical atrophy, Progressive spastic paraplegia, Difficulty walking, Babinski sign, Low...	ORPHA:401820
Lichtenstein-Knorr Syndrome	Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Action tremor, Dysmetria...	OMIM:616291
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Broad-based gait, Cerebral atrophy, Generalized hypotonia, Inability to walk, Lumbar hyperlordosi...	OMIM:616756
Epilepsy, Progressive Myoclonic, 11	Cerebellar vermis hypoplasia, Cerebellar atrophy, Myoclonus, Rigidity, Ataxia, Intention tremor	OMIM:618876
Adult Neuronal Ceroid Lipofuscinosis	Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal...	ORPHA:79262
Spinocerebellar Ataxia 12	Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Action tremor, Dysmetria, Axial dysto...	OMIM:604326
Developmental And Epileptic Encephalopathy 14	Cerebral cortical atrophy, Spasticity, Generalized hypotonia, Hypotonia, Clonus, Tetraplegia, Neu...	OMIM:614959
Dystonia 23	Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Myoclonus, Limb dystonia, Axial dysto...	OMIM:614860
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy	Cerebral cortical atrophy, Spasticity, Gait ataxia, Dysmetria, Cerebellar hypoplasia, Spastic ata...	ORPHA:314603
Intellectual Developmental Disorder, X-Linked 12	Cerebellar vermis hypoplasia, Spasticity, Hypotonia, Abnormal cerebellum morphology, Tremor, Hype...	OMIM:300957
Spinocerebellar Ataxia Type 40	Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Pontocerebellar ...	ORPHA:423275
Autosomal Dominant Spastic Ataxia Type 1	Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata...	ORPHA:251282
Spinocerebellar Ataxia 31	Cerebellar atrophy, Limb ataxia, Gait ataxia, Ataxia	OMIM:117210
X-Linked Progressive Cerebellar Ataxia	Frequent falls, Cerebellar vermis atrophy, Limb ataxia, Intention tremor, Dysmetria, Progressive ...	ORPHA:1175
Neurodegeneration With Brain Iron Accumulation 7	Cerebellar atrophy, Cerebral atrophy, Hypotonia, Tremor, Dysmetria, Loss of ambulation, Lower lim...	OMIM:617916
Dystonia, Dopa-Responsive	Spasticity, Resting tremor, Incoordination, Postural tremor, Gait ataxia, Cogwheel rigidity, Dyst...	OMIM:128230
Nescav Syndrome	Spasticity, Cerebellar atrophy, Cerebral atrophy, Generalized hypotonia, Inability to walk, Cereb...	OMIM:614255
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Hypotonia, Gait ataxia, Trem...	OMIM:618090
Lopes-Maciel-Rodan Syndrome	Spasticity, Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Tremor, Ankle clonus...	OMIM:617435
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebral cortical atrophy, Cerebellar atrophy, Myoclonus, Gait ataxia, Tremor, Abnormality of ext...	OMIM:615362
Machado-Joseph Disease	Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Facial-lingual fasciculations, Fasc...	OMIM:109150
Spinocerebellar Ataxia, Autosomal Recessive 29	Cerebellar atrophy, Generalized dystonia, Inability to walk, Cerebellar vermis atrophy, Hypotonia...	OMIM:619389
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Tongue fasciculations, Spasticity, Global brain atrophy, Cerebellar atrophy, Hypoplasia of the po...	OMIM:618276
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Hepatomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Auto...	OMIM:614470
Segawa Syndrome, Autosomal Recessive	Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst...	OMIM:605407
Spinocerebellar Ataxia, Autosomal Recessive 17	Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Hypotonia, Limb ataxia, Gait ...	OMIM:616127
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Spastic Paraplegia 78, Autosomal Recessive	Impaired vibratory sensation, Spastic paraplegia, Cerebral cortical atrophy, Falls, Resting tremo...	OMIM:617225
Ceroid Lipofuscinosis, Neuronal, 8	Cerebellar atrophy, Cerebral atrophy, Increased neuronal autofluorescent lipopigment, Myoclonus, ...	OMIM:600143
Glut1 Deficiency Syndrome 1	Spasticity, Myoclonus, Paroxysmal dystonia, Hemiparesis, Babinski sign, Paralysis, Ataxia, Choreo...	OMIM:606777
Microcephaly 10, Primary, Autosomal Recessive	Spasticity, Cerebellar atrophy, Cerebral atrophy, Cerebellar hemisphere hypoplasia, Gliosis, Hype...	OMIM:615095
Pelizaeus-Merzbacher Disease, Connatal Form	Failure to thrive, Difficulty walking, Inability to walk, Hypotonia, Cerebellar hypoplasia, Dysto...	ORPHA:280210
Striatal Degeneration, Autosomal Dominant 1	Degeneration of the striatum, Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesi...	OMIM:609161
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Obesity, Hypotonia, Limb dystonia, Tremor, Cerebellar hypoplasia, Ataxia	OMIM:620270
Spinocerebellar Ataxia 30	Cerebellar atrophy, Ataxia	OMIM:613371
X-Linked Charcot-Marie-Tooth Disease Type 1	Impaired pain sensation, Tremor, Gait disturbance, Ataxia, Scoliosis, Kyphosis	ORPHA:101075
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Spasticity, Falls, Cerebellar atrophy, Cerebral atrophy, Action tremor, Rigidity, Babinski sign, ...	OMIM:300423
Spinocerebellar Ataxia 20	Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor	OMIM:608687
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus, Axial hypotonia	ORPHA:494526
Spastic Paraplegia 50, Autosomal Recessive	Cerebellar atrophy, Neonatal hypotonia, Cerebral palsy, Hypotonia, Babinski sign, Limb hypertonia...	OMIM:612936
Spastic Paraplegia, Ataxia, And Impaired Intellectual Development	Spastic paraplegia, Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Ankle cl...	OMIM:607565
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Spastic paraplegia, Tremor	OMIM:309560
L-2-Hydroxyglutaric Aciduria	Global brain atrophy, Cerebellar atrophy, Abnormality of extrapyramidal motor function, Abnormal ...	OMIM:236792
Spinocerebellar Ataxia 48	Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Cachexia...	OMIM:618093
Sandhoff Disease, Adult Form	Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia	ORPHA:309169
Neuroectodermal Melanolysosomal Disease	Cerebral cortical atrophy, Spasticity, Hypotonia, Tremor, Rigidity, Cerebellar hypoplasia, Cerebr...	ORPHA:33445
Spinocerebellar Ataxia, Autosomal Recessive 13	Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Dilated fourth vent...	OMIM:614831
Mast Syndrome	Spastic paraplegia, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Incoordination, Ba...	OMIM:248900
Sporadic Creutzfeldt-Jakob Disease	Spasticity, Cerebral atrophy, Astrocytosis, Myoclonus, Abnormality of extrapyramidal motor functi...	ORPHA:204
Spinocerebellar Ataxia, Autosomal Recessive 14	Spasticity, Cerebellar atrophy, Gait ataxia, Intention tremor, Dysmetria, Unsteady gait, Dysdiado...	OMIM:615386
Dyskinesia, Limb And Orofacial, Infantile-Onset	Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus, Axial hypot...	OMIM:616921
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Spasticity, Cerebellar atrophy, Cerebral atrophy, Hypotonia, Positive Romberg sign, Dysmetria, Lo...	OMIM:618088
Spinocerebellar Ataxia, Autosomal Recessive 12	Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Babinski sig...	OMIM:614322
Leukodystrophy, Hypomyelinating, 11	Spasticity, Cerebellar atrophy, Failure to thrive, Myoclonus, Tremor, Ataxia	OMIM:616494
Tremor, Hereditary Essential, 6	Cerebellar atrophy, Postural tremor, Head tremor, Kinetic tremor, Vocal tremor	OMIM:618866
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Cerebellar atrophy, Gait ataxia, Dysmetria, Distal sensory impairment, Tremor, Steppage gait, Ataxia	OMIM:618387
Frontotemporal Dementia With Motor Neuron Disease	Global brain atrophy, Tetraparesis, Fasciculations, Abnormal upper motor neuron morphology, Abnor...	ORPHA:275872
X-Linked Charcot-Marie-Tooth Disease Type 4	Impaired pain sensation, Tremor, Gait disturbance, Ataxia, Scoliosis, Kyphosis	ORPHA:101078
Cerebellar Ataxia, Cayman Type	Broad-based gait, Cerebellar atrophy, Hypotonia, Gait ataxia, Cerebellar hypoplasia, Dystonia, At...	OMIM:601238
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity	Progressive cerebellar ataxia, Spasticity, Cerebral atrophy, Impaired vibration sensation in the ...	ORPHA:352641
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia	ORPHA:401901
Classic Glucose Transporter Type 1 Deficiency Syndrome	Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Hypertonia, Ataxia, Dystonia, Cho...	ORPHA:71277
X-Linked Intellectual Disability, Hedera Type	Cerebellar atrophy, Frequent falls, Inability to walk, Extrapyramidal muscular rigidity, Obesity,...	ORPHA:93952
Spastic Paraplegia 30, Autosomal Dominant	Spastic paraplegia, Cerebellar atrophy, Dysmetria, Ankle clonus, Babinski sign, Lower limb spasti...	OMIM:610357
Peroxisome Biogenesis Disorder 8B	Spasticity, Spastic paraparesis, Neonatal hypotonia, Loss of ambulation, Clonus, Ataxia, Unsteady...	OMIM:614877
Epilepsy, Progressive Myoclonic, 8	Action myoclonus, Falls, Cerebellar atrophy, Limb ataxia, Myoclonus, Gait disturbance, Atrophy/De...	OMIM:616230
Basal Ganglia Calcification, Idiopathic, 1	Cerebellar dentate nucleus calcification, Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Par...	OMIM:213600
Familial Infantile Bilateral Striatal Necrosis	Spasticity, Failure to thrive, Tetraparesis, Astrocytosis, Gait ataxia, Cogwheel rigidity, Myoclo...	ORPHA:225154
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Lower limb spasticity, At...	OMIM:619028
Spinocerebellar Ataxia, Autosomal Recessive 25	Dysmetria, Cerebellar hypoplasia, Babinski sign, Ataxia, Truncal ataxia	OMIM:617584
Spinocerebellar Ataxia, Autosomal Recessive 10	Cerebellar atrophy, Fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Truncal a...	OMIM:613728
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Cerebellar dysplasia, Hypotonia, Tremor, Hyperkinetic movements, Gait disturbance, Gliosis, Overw...	ORPHA:457240
Spinocerebellar Ataxia Type 17	Blepharospasm, Involuntary movements, Spasticity, Cerebellar atrophy, Chorea, Rigidity, Dystonia,...	ORPHA:98759
Spinocerebellar Ataxia, Autosomal Recessive 8	Spasticity, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Abnormality of extrapyramida...	OMIM:610743
Dentatorubral-Pallidoluysian Atrophy	Chorea, Myoclonus, Parkinsonism, Atrophy of the dentate nucleus, Ataxia, Dystonia, Choreoathetosis	OMIM:125370
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculomo...	OMIM:617145
Congenital Cerebellar Ataxia Due To Rnu12 Mutation	Broad-based gait, Cerebellar atrophy, Difficulty walking, Cerebellar vermis atrophy, Infantile ax...	ORPHA:512260
Leukodystrophy, Hypomyelinating, 18	Spasticity, Cerebellar atrophy, Failure to thrive, Dysmetria, Babinski sign, Atrophy/Degeneration...	OMIM:618404
Dystonia 22, Juvenile-Onset	Cerebellar atrophy, Generalized dystonia, Laryngeal dystonia, Intention tremor, Dysmetria, Lower ...	OMIM:620453
Spastic Paraplegia 53, Autosomal Recessive	Impaired vibratory sensation, Spastic paraplegia, Upper limb hypertonia, Gait disturbance, Clonus...	OMIM:614898
Ceroid Lipofuscinosis, Neuronal, 5	Cerebral cortical atrophy, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, My...	OMIM:256731
Autosomal Recessive Spastic Paraplegia Type 53	Impaired vibratory sensation, Failure to thrive, Upper limb hypertonia, Limb dystonia, Clonus, Ky...	ORPHA:319199
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1	Broad-based gait, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Generalized hypotoni...	OMIM:224050
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Amyotrophic lateral sclerosis, Tetraparesis, Cerebral atrophy, Abnormal lower motor neuron morpho...	OMIM:105550
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Cerebral atrophy, Generalized hypotonia, Neurodegeneration, Hypotonia, Abnorm...	OMIM:256600
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Difficulty walking, Postural ...	ORPHA:284324
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Cerebellar atrophy, Generalized dystonia, Generalized hypotonia, Inability to walk...	OMIM:128100
Roussy-Lévy Syndrome	Impaired vibratory sensation, Impaired pain sensation, Somatic sensory dysfunction, Frequent fall...	ORPHA:3115
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Cerebral atrophy, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Neuronal ...	OMIM:615924
Myoclonus, Familial, 1	Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls	OMIM:614937
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia, Axial hypotonia	OMIM:618425
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Difficulty walking, Paralysis	OMIM:608634
Spinal Muscular Atrophy, Jokela Type	Difficulty walking, Tremor, Distal sensory impairment, Fasciculations	OMIM:615048
Juvenile Huntington Disease	Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Oral motor hypotonia, Chorea, Ga...	ORPHA:248111
Developmental And Epileptic Encephalopathy 37	Spasticity, Cerebellar atrophy, Cerebral atrophy, Chorea, Hypotonia, Cogwheel rigidity, Myoclonus...	OMIM:616981
Rapid-Onset Dystonia-Parkinsonism	Cerebellar atrophy, Resting tremor, Generalized hypotonia, Gait ataxia, Limb dystonia, Parkinsoni...	ORPHA:71517
Spinocerebellar Ataxia 42	Loss of Purkinje cells in the cerebellar vermis, Cerebellar atrophy, Tremor, Babinski sign, Spast...	OMIM:616795
Autosomal Recessive Spastic Paraplegia Type 69	Cerebral cortical atrophy, Progressive spastic paraplegia, Hand tremor, Lower limb spasticity, Sp...	ORPHA:401830
Glycosylphosphatidylinositol Biosynthesis Defect 15	Spasticity, Cerebellar atrophy, Inability to walk, Hypotonia, Gait ataxia, Tremor, Dysmetria, Cer...	OMIM:617810
Spinocerebellar Ataxia 11	Cerebellar atrophy, Gait imbalance, Limb ataxia, Gait ataxia, Truncal ataxia, Progressive cerebel...	OMIM:604432
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Distal sensory impairment	OMIM:614369
Spinocerebellar Ataxia, Autosomal Recessive 21	Spasticity, Impaired pain sensation, Cerebellar vermis atrophy, Paresthesia, Gait ataxia, Limb at...	OMIM:616719
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Small for gestational age, Cerebellar vermis atrophy, Dilated fourth ventricle, Hypotonia, Limb d...	OMIM:619054
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Poor motor coordination, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Dilated fourt...	ORPHA:1170
Autosomal Spastic Paraplegia Type 58	Spasticity, Cerebellar atrophy, Tip-toe gait, Cerebral atrophy, Frequent falls, Fasciculations, C...	ORPHA:397946
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Inability to walk, N...	OMIM:617672
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Spastic paraparesis, Resting tremor, Incoordination, Neurodegeneration, Paraparesis, Gait apraxia...	OMIM:615157
Infantile Neuronal Ceroid Lipofuscinosis	Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Increased neuronal a...	ORPHA:79263
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy	Spasticity, Cerebellar atrophy, Generalized hypotonia, Ataxia, Scoliosis, Spastic tetraplegia	OMIM:617207
Spinocerebellar Ataxia 7	Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig...	OMIM:164500
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Cerebellar vermis hypoplasia, Gait ataxia, Dysmetria, Dystonia, Babinski sign, Clumsiness, Oculom...	ORPHA:453521
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Generalized hypotonia, Kyphoscoliosis, Ataxia	OMIM:619099
Spinocerebellar Ataxia, X-Linked 5	Neonatal hypotonia, Action tremor, Ataxia	OMIM:300703
Developmental Delay And Seizures With Or Without Movement Abnormalities	Generalized hypotonia, Tremor, Rigidity, Chiari type I malformation, Dystonia, Ataxia, Bradykinesia	OMIM:617836
Spinocerebellar Ataxia 19	Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Myoclonus, Trun...	OMIM:607346
Spastic Paraplegia 6, Autosomal Dominant	Spastic paraplegia, Impaired vibration sensation in the lower limbs, Tremor, Degeneration of the ...	OMIM:600363
Atypical Juvenile Parkinsonism	Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Inability to...	ORPHA:391411
Porphyria, Acute Hepatic	Failure to thrive, Hypotonia, Paresthesia, Respiratory paralysis, Paralysis	OMIM:612740
Combined Oxidative Phosphorylation Deficiency 45	Failure to thrive, Tremor, Short neck, Ataxia, Axial hypotonia	OMIM:618951
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Cerebral atrophy, Myoclonus, Distal sensory impairment, Abnormality of extrapyramidal motor funct...	OMIM:604218
Cyanide-Induced Parkinsonism-Dystonia	Short stepped shuffling gait, Shuffling gait, Cerebral cortical atrophy, Falls, Resting tremor, R...	ORPHA:306692
Spinocerebellar Ataxia 29	Truncal titubation, Diffuse cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, C...	OMIM:117360
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Leukopenia, Acute myeloid leukemia, Refractory anemia, Monocytosis	OMIM:616871
Parkinson Disease 2, Autosomal Recessive Juvenile	Shuffling gait, Pill-rolling tremor, Resting tremor, Cerebral atrophy, Postural tremor, Gait atax...	OMIM:600116
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Spasticity, Pseudobulbar paralysis, Abnormal cerebellum morphology, Babinski sign, Corpus callosu...	OMIM:169500
Spinocerebellar Ataxia Type 27	Cerebellar atrophy, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, ...	ORPHA:98764
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Difficulty walking, Vocal cord paresis, Vocal cord paralysis, Tremor	OMIM:158580
Multiple Mitochondrial Dysfunctions Syndrome 6	Spasticity, Cerebellar atrophy, Failure to thrive, Inability to walk, Hypotonia, Dysmetria, Atrop...	OMIM:617954
Behr Syndrome	Cerebellar atrophy, Cerebellar vermis atrophy, Dysmetria, Tremor, Babinski sign, Gait disturbance...	OMIM:210000
Parkinson Disease 15, Autosomal Recessive Early-Onset	Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe...	OMIM:260300
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Impaired vibratory sensation, Spasticity, Cerebellar vermis hypoplasia, Cerebellar atrophy, Parie...	ORPHA:98
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Oculogyric crisis, Cerebellar atrophy, Difficulty walking, Inability to walk, Tremor, Diffuse cer...	ORPHA:330050
Lethal Congenital Contracture Syndrome 7	Cerebellar atrophy, Cerebral atrophy, Generalized hypotonia, Hypotonia, Paralysis	OMIM:616286
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Cerebellar atrophy, Hypotonia, Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive ...	ORPHA:139485
Spastic Paraplegia 5A, Autosomal Recessive	Spastic paraplegia, Impaired vibration sensation in the lower limbs, Postural tremor, Limb dysmet...	OMIM:270800
Atypical Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Focal dystonia, Chorea, Limb dystonia, Tremor, Rigidity, Clumsiness, Parkinsonism, Ab...	ORPHA:216873
Epilepsy, Progressive Myoclonic, 1B	Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia	OMIM:612437
Congenital Disorder Of Glycosylation, Type Iibb	Cerebellar vermis hypoplasia, Spasticity, Cerebellar atrophy, Failure to thrive, Tetraparesis, An...	OMIM:620546
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Loss of ambulation, Tremor, Fasciculations	OMIM:182980
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Tongue fasciculations, Failure to thrive, Appendicular hypotonia, Ataxia, Kyphosis, Axial hypotonia	OMIM:620007
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Cerebellar atrophy, Generalized hypotonia, Hypotonia, Gait ataxia, Myoclonus, Dysmetria, Distal s...	OMIM:616505
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Cerebellar atrophy, Cerebral atrophy, Difficulty walking, Impaired vibration sensation in the low...	ORPHA:137898
Autosomal Recessive Spastic Paraplegia Type 46	Cerebral cortical atrophy, Broad-based gait, Cerebellar atrophy, Cerebral atrophy, Difficulty wal...	ORPHA:320391
Spinocerebellar Ataxia 50	Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Postural tremor, Myoclonus, Action tremor,...	OMIM:620158
Spinocerebellar Ataxia Type 2	Cerebral cortical atrophy, Fasciculations, Generalized hypotonia, Chorea, Postural tremor, Gait a...	ORPHA:98756
Autosomal Recessive Ataxia, Beauce Type	Impaired vibratory sensation, Spasticity, Arm dystonia, Cerebellar atrophy, Neonatal hypotonia, F...	ORPHA:88644
X-Linked Charcot-Marie-Tooth Disease Type 5	Impaired pain sensation, Tremor, Gait disturbance, Paraparesis, Ataxia, Scoliosis, Kyphosis	ORPHA:99014
Ataxia, Sensory, 1, Autosomal Dominant	Dysesthesia, Abnormal cerebellum morphology, Positive Romberg sign, Gait ataxia, Babinski sign, G...	OMIM:608984
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Gait disturbance, Tremor	OMIM:611808
Neuropathy, Hereditary Motor And Sensory, Russe Type	Difficulty walking, Paralysis, Scoliosis, Distal sensory impairment	OMIM:605285
Spastic Ataxia 3, Autosomal Recessive	Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia...	OMIM:611390
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Impaired vibratory sensation, Somatic sensory dysfunction, Impaired pain sensation, Hand tremor, ...	ORPHA:99947
Hypermanganesemia With Dystonia 2	Spasticity, Limb dystonia, Opisthotonus, Parkinsonism, Bradykinesia, Tip-toe gait, Cerebral atrop...	OMIM:617013
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Spasticity, Cerebral atrophy, Abnormal upper motor neuron morphology, Myoclonus, Babinski sign, A...	OMIM:221770
Epilepsy, Progressive Myoclonic, 6	Difficulty walking, Myoclonus, Tremor, Loss of ambulation, Ataxia, Scoliosis	OMIM:614018
Spinocerebellar Ataxia 5	Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Incoordination, Hypotonia, Li...	OMIM:600224
Spinocerebellar Ataxia 14	Cerebellar atrophy, Gait ataxia, Dysmetria, Focal dystonia, Impaired vibration sensation at ankle...	OMIM:605361
Leigh Syndrome, Nuclear	Spasticity, Failure to thrive, Generalized hypotonia, Hypotonia, Gliosis, Ataxia, Dystonia	OMIM:256000
Parkinsonism-Dystonia 3, Childhood-Onset	Global brain atrophy, Cerebellar atrophy, Chorea, Action tremor, Tremor, Hyperkinetic movements, ...	OMIM:619738
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Spasticity, Impaired pain sensation, Cerebral atrophy, Inability to walk, Chorea, Gait ataxia, Ab...	ORPHA:500180
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Generalized dystonia, Limb ataxia, Limb dystonia, Rigidity, Babinski sign, Parkinsonism, Hyperton...	OMIM:618824
X-Linked Charcot-Marie-Tooth Disease Type 3	Spastic paraparesis, Somatic sensory dysfunction, Difficulty walking, Inability to walk, Tremor, ...	ORPHA:101077
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment, Tremor, Loss of ...	OMIM:208920
Xeroderma Pigmentosum, Complementation Group G	Spasticity, Small for gestational age, Tremor, Ataxia	OMIM:278780
Leukoencephalopathy, Progressive, With Ovarian Failure	Spasticity, Cerebellar atrophy, Hand tremor, Neurodegeneration, Babinski sign, Apraxia, Ataxia, D...	OMIM:615889
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Myoclonus, Tremor, Rigidity, Diffuse cerebral atrophy, Babinski sign, Dystonia, ...	ORPHA:314632
Stxbp1-Related Encephalopathy	Spasticity, Inability to walk, Hypotonia, Tremor, Ataxia, Dystonia, Spastic tetraplegia	ORPHA:599373
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia	Spasticity, Cerebellar atrophy, Intention tremor, Dysmetria, Progressive gait ataxia, Truncal ata...	ORPHA:352403
Hemiparkinsonism-Hemiatrophy Syndrome	Generalized hypotonia, Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism, Cerebral ...	ORPHA:306669
Pyruvate Dehydrogenase E1-Alpha Deficiency	Cerebral atrophy, Inability to walk, Hypotonia, Dystonia, Gliosis, Ataxia, Cerebellar gliosis, Ce...	ORPHA:79243
Spinocerebellar Ataxia Type 28	Spasticity, Head tremor, Limb ataxia, Gait ataxia, Limb dystonia, Rigidity, Dystonia, Babinski si...	ORPHA:101109
Leukodystrophy, Hypomyelinating, 6	Spasticity, Cerebellar atrophy, Hypotonia, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia...	OMIM:612438
Spinocerebellar Ataxia 2	Spasticity, Action tremor, Parkinsonism, Ataxia, Unsteady gait, Bradykinesia, Progressive cerebel...	OMIM:183090
Urocanase Deficiency	Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia	OMIM:276880
Pelizaeus-Merzbacher Disease	Spastic paraplegia, Broad-based gait, Global brain atrophy, Failure to thrive, Generalized dyston...	OMIM:312080
Pontocerebellar Hypoplasia, Type 2A	Cerebral cortical atrophy, Hypoplasia of the pons, Chorea, Cerebellar hypoplasia, Opisthotonus, G...	OMIM:277470
Mitochondrial Complex I Deficiency, Nuclear Type 15	Cerebellar atrophy, Kyphosis, Failure to thrive, Generalized hypotonia, Dystonia, Spastic tetrapl...	OMIM:618237
Spinocerebellar Ataxia Type 29	Dysdiadochokinesis, Cerebellar atrophy, Generalized hypotonia, Cerebellar vermis atrophy, Gait at...	ORPHA:208513
Spastic Paraplegia 7, Autosomal Recessive	Spastic paraplegia, Cerebral cortical atrophy, Cerebellar atrophy, Upper limb hypertonia, Lower l...	OMIM:607259
Coenzyme Q10 Deficiency, Primary, 4	Cerebellar atrophy, Hypotonia, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Axial hypotonia	OMIM:612016
Spastic Paraplegia 75, Autosomal Recessive	Spasticity, Spastic paraparesis, Cerebellar atrophy, Neonatal hypotonia, Hypotonia, Dysmetria, Lo...	OMIM:616680
Primary Dystonia, Dyt27 Type	Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Axial dystonia, Action tremor, Oro...	ORPHA:464440
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis	OMIM:619281
Dystonia 3, Torsion, X-Linked	Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi...	OMIM:314250
Spinocerebellar Ataxia 28	Spasticity, Cerebellar atrophy, Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Babinski s...	OMIM:610246
Spinocerebellar Ataxia, Autosomal Recessive 18	Cerebellar atrophy, Incoordination, Cerebellar vermis atrophy, Hypotonia, Gait ataxia, Dysmetria,...	OMIM:616204
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Spastic paraplegia, Cerebellar atrophy, Difficulty walking, Neurodegeneration, Dysmetria, Ankle c...	OMIM:612319
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Cerebellar atrophy, Gait disturbance, Ataxia, Scoliosis, Kyphosis	ORPHA:85317
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Tip-toe gait, Hypotonia, Lower limb spasticity, Gait disturbance, Hyperlordosis, Scoliosis, Kypho...	OMIM:617404
Parkinson Disease 1, Autosomal Dominant	Shuffling gait, Global brain atrophy, Resting tremor, Myoclonus, Rigidity, Loss of ambulation, Dy...	OMIM:168601
Immunodeficiency 15B	Reduced natural killer cell count, Monocytosis	OMIM:615592
Spinocerebellar Ataxia 27B, Late-Onset	Postural tremor, Limb ataxia, Gait ataxia, Cerebellar atrophy	OMIM:620174
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Spasticity, Distal sensory impairment, Tremor, Babinski sign, Steppage gait, Hypertonia, Scoliosis	OMIM:609260
Spinocerebellar Ataxia, Autosomal Recessive 32	Cerebellar atrophy, Somatic sensory dysfunction, Limb myoclonus, Postural tremor, Limb ataxia, Ga...	OMIM:619862
Hereditary Neuropathy With Liability To Pressure Palsies	Paresthesia, Scoliosis, Vocal cord paralysis	ORPHA:640
Spinocerebellar Ataxia Type 21	Cerebellar vermis atrophy, Akinesia, Gait ataxia, Tremor, Rigidity, Abnormality of extrapyramidal...	ORPHA:98773
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Cerebellar atrophy, Tip-toe gait, Hand tremor, Difficulty walking, Incoordination, Dysmetria, Dis...	OMIM:302800
Dystonia 27	Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O...	OMIM:616411
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Cerebellar atrophy, Cerebral atrophy, Generalized hypotonia, Difficulty walking, Abnormal pyramid...	ORPHA:527497
Spastic Paraplegia 85, Autosomal Recessive	Impaired vibratory sensation, Spastic paraplegia, Upper limb spasticity, Cerebellar atrophy, Impa...	OMIM:619686
Spastic Paraplegia 26, Autosomal Recessive	Impaired vibratory sensation, Spastic paraplegia, Cerebral cortical atrophy, Tip-toe gait, Freque...	OMIM:609195
Spinocerebellar Ataxia 15	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia	OMIM:606658
Congenital Neuronal Ceroid Lipofuscinosis	Spasticity, Cerebellar atrophy, Abnormal astrocyte morphology, Cerebellar hypoplasia, Gliosis	ORPHA:168486
Alexander Disease Type I	Spasticity, Cerebellar atrophy, Failure to thrive, Generalized hypotonia, Hypotonia, Cachexia, Ab...	ORPHA:363717
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy	Spasticity, Cerebellar atrophy, Hypotonia, Limb ataxia, Limb dystonia, Abnormal pyramidal sign, H...	OMIM:617560
Hyperphenylalaninemia, Bh4-Deficient, D	Hypertonia, Tremor, Generalized hypotonia	OMIM:264070
Spinocerebellar Ataxia, Autosomal Recessive 30	Cerebellar atrophy, Cerebral atrophy, Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation	OMIM:619405
Spastic Paraparesis And Deafness	Spastic paraparesis, Tremor	OMIM:312910
Dystonia 28, Childhood-Onset	Spasticity, Tip-toe gait, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dyston...	OMIM:617284
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Cerebellar atrophy, Ataxia, Unsteady gait, Scoliosis, Kyphosis	OMIM:300861
Myoclonic-Atonic Epilepsy	Hypotonia, Tremor, Ataxia, Eyelid myoclonus, Scoliosis	OMIM:616421
Intellectual Developmental Disorder, X-Linked 111	Spasticity, Cerebral palsy, Hippocampal atrophy, Kyphoscoliosis, Dystonia, Corpus callosum atroph...	OMIM:301107
Corticobasal Syndrome	Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu...	ORPHA:454887
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Spasticity, Progressive spastic paraplegia, Cerebral atrophy, Difficulty walking, Obesity, Dyston...	ORPHA:464282
Spinocerebellar Ataxia, Autosomal Recessive 26	Cerebellar atrophy, Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetria, Oculomotor apraxi...	OMIM:617633
Spinocerebellar Ataxia 46	Cerebellar atrophy, Limb ataxia, Gait ataxia, Positive Romberg sign, Dysmetria	OMIM:617770
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Difficulty walking, Paralysis, Distal sensory impairment	OMIM:613710
Spinocerebellar Ataxia 49	Cerebellar atrophy, Dysmetria, Abnormality of extrapyramidal motor function, Loss of ambulation, ...	OMIM:619806
Tay-Sachs Disease	Global brain atrophy, Cerebellar atrophy, Fasciculations, Incoordination, Inability to walk, Lary...	ORPHA:845
Leukoencephalopathy With Vanishing White Matter 1	Spasticity, Generalized hypotonia, Hypotonia, Gait disturbance, Gliosis, Unsteady gait	OMIM:603896
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Limb myoclonus, Frequent falls, Difficulty walking, Inability to walk, Myoclonus, Tremor, Abnorma...	ORPHA:2590
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Cerebellar atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait	ORPHA:284271
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Spasticity, Small for gestational age, Cerebral palsy, Cerebral atrophy, Hypotonia, Myoclonus, Li...	OMIM:619847
Atypical Rett Syndrome	Spasticity, Involuntary movements, Pill-rolling tremor, Impaired pain sensation, Limb myoclonus, ...	ORPHA:3095
Adult Idiopathic Neutropenia	Monocytopenia, Lymphopenia, Neutropenia, Monocytosis	ORPHA:2688
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Peroxisome Biogenesis Disorder 5B	Cerebellar atrophy, Neonatal hypotonia, Generalized hypotonia, Tremor, Dysmetria, Oculomotor apra...	OMIM:614867
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Failure to thrive, Myoclonus, Tremor, Dystonia, Axial hypotonia	OMIM:619651
Parkinsonism With Spasticity, X-Linked	Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia	OMIM:300911
Dystonia 11, Myoclonic	Hypotonia, Myoclonus, Tremor, Torticollis, Writer's cramp	OMIM:159900
Spastic Tetraplegia And Axial Hypotonia, Progressive	Cerebellar atrophy, Fasciculations, Axial hypotonia, Ankle clonus, Babinski sign, Abnormal pyrami...	OMIM:618598
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Involuntary movements, Resting tremor, Chorea, Hypotonia, Myoclonus, Limb hypertonia, Camptocormi...	OMIM:606703
Primary Dystonia, Dyt13 Type	Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac...	ORPHA:98807
Developmental And Epileptic Encephalopathy 97	Inability to walk, Hypotonia, Tremor	OMIM:619561
Spastic Paraplegia 79B, Autosomal Recessive	Impaired vibratory sensation, Spastic paraplegia, Cerebellar atrophy, Cerebral atrophy, Tetrapare...	OMIM:615491
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Broad-based gait, Tip-toe gait, Fasciculations, Babinski sign, Lower limb spasticity, Steppage ga...	OMIM:615290
Spinocerebellar Ataxia Type 26	Cerebellar atrophy, Limb ataxia, Progressive gait ataxia, Babinski sign, Truncal ataxia, Progress...	ORPHA:101112
Lower Motor Neuron Syndrome With Late-Adult Onset	Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Gait disturbance, Impaired dist...	ORPHA:276435
Spinocerebellar Ataxia 44	Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Ataxia, Frequent falls, Dysdiadochokinesis	OMIM:617691
Gerstmann-Straussler Disease	Spasticity, Cerebellar atrophy, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Parkinsoni...	OMIM:137440
Spinocerebellar Ataxia 8	Spasticity, Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cere...	OMIM:608768
Beta-Propeller Protein-Associated Neurodegeneration	Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Tremor, Rigidity, Dystonia, Parkinsoni...	ORPHA:329284
Machado-Joseph Disease Type 1	Spasticity, Degeneration of the striatum, Cerebellar atrophy, Dilated fourth ventricle, Abnormali...	ORPHA:276238
Machado-Joseph Disease Type 2	Spasticity, Degeneration of the striatum, Cerebellar atrophy, Dilated fourth ventricle, Abnormali...	ORPHA:276241
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Impaired pain sensation, Obesity, Hypotonia, Distal sensory impairment, Loss of ambulation, Ataxi...	OMIM:618124
Spinocerebellar Ataxia 34	Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Fasciculations, Limb ataxia, Gait atax...	OMIM:133190
Spinocerebellar Ataxia, Autosomal Recessive 7	Truncal titubation, Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxi...	OMIM:609270
Masa Syndrome	Spastic paraplegia, Shuffling gait, Paraplegia, Lower limb spasticity, Hyperlordosis, Kyphosis	OMIM:303350
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Spasticity, Cerebellar atrophy, Generalized hypotonia, Difficulty walking, Gait ataxia, Dysmetria...	ORPHA:529665
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Rigidity, Babinski sign, Clonus, Limb hypertonia, Myoclonic spasms, Hypertonia, Neuronal loss in ...	OMIM:614498
Hemimegalencephaly	Abnormal neuron morphology, Myoclonus, Gliosis, Hemiparesis	ORPHA:99802
Ataxia-Telangiectasia-Like Disorder	Cerebellar vermis hypoplasia, Cerebellar atrophy, Generalized hypotonia, Chorea, Dilated fourth v...	ORPHA:251347
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Cerebellar hypoplasia, Diffuse cerebral atrophy, Head titubation, Gliosis, Vestibular areflexia, ...	ORPHA:3240
Pontocerebellar Hypoplasia, Type 1A	Tongue fasciculations, Cerebral cortical atrophy, Hypoplasia of the pons, Hand tremor, Fasciculat...	OMIM:607596
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hypotonia, Lower limb spasticity, Gliosis	OMIM:615119
Amyotrophic Lateral Sclerosis 2, Juvenile	Spasticity, Amyotrophic lateral sclerosis, Difficulty walking, Abnormal exteroceptive sensation, ...	OMIM:205100
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic paraplegia, Spastic tetraplegia, Shuffling gait, Resting tremor, Obesity, Facial hypotoni...	OMIM:300055
Sandhoff Disease	Kyphosis, Failure to thrive, Ataxia	ORPHA:796
Hyperphenylalaninemia, Bh4-Deficient, C	Hypotonia, Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis	OMIM:261630
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Amyotrophic lateral sclerosis, Cerebral atrophy, Abnormal lower motor neuron morphology, Paralysi...	OMIM:105500
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay	Hippocampal sclerosis, Myoclonus, Tremor	OMIM:615400
Parkinson Disease 19A, Juvenile-Onset	Spasticity, Shuffling gait, Pill-rolling tremor, Rigidity, Loss of ambulation, Dystonia, Parkinso...	OMIM:615528
Ataxia-Telangiectasia-Like Disorder 1	Cerebellar atrophy, Chorea, Hypotonia, Gait ataxia, Dysmetria, Dystonia, Lower limb spasticity, O...	OMIM:604391
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Postural tremor, Dysmetria, Tremor, Lo...	OMIM:607694
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe...	OMIM:620135
Leukoencephalopathy With Calcifications And Cysts	Spasticity, Cerebellar dentate nucleus calcification, Tremor, Abnormal pyramidal sign, Gait distu...	ORPHA:542310
Marinesco-Sjogren Syndrome	Spasticity, Cerebellar atrophy, Failure to thrive, Hypotonia, Limb ataxia, Gait ataxia, Ataxia, C...	OMIM:248800
Intellectual Developmental Disorder, X-Linked 104	Cerebral cortical atrophy, Spasticity, Tremor, Ataxia	OMIM:300983
Perrault Syndrome 1	Cerebellar atrophy, Gait ataxia, Ataxia, Scoliosis, Intention tremor, Spastic diplegia	OMIM:233400
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Failure to thrive, Inability to walk, Hypotonia, Tremor, Cerebellar hypoplasia, Hypertonia, Ataxia	OMIM:619556
Parkinsonism-Dystonia 2, Infantile-Onset	Shuffling gait, Oculogyric crisis, Incoordination, Hypotonia, Tremor, Parkinsonism, Ataxia, Dysto...	OMIM:618049
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Tongue fasciculations, Cerebellar atrophy, Cataplexy, Inability to walk, Hypotonia, Diffuse cereb...	OMIM:617193
Progressive Supranuclear Palsy	Blepharospasm, Cerebral cortical atrophy, Falls, Tremor, Rigidity, Dystonia, Gliosis, Neuronal lo...	ORPHA:683
Cerebral Creatine Deficiency Syndrome 2	Hypotonia, Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, I...	OMIM:612736
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Paralysis	OMIM:158590
Cerebrooculofacioskeletal Syndrome 1	Small for gestational age, Cerebellar atrophy, Failure to thrive, Neurodegeneration, Hypotonia, K...	OMIM:214150
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cerebral cortical atrophy, Chorea, Paresthesia, Intention tremor, Dysmetria, Abnormality of the c...	ORPHA:48431
Machado-Joseph Disease Type 3	Spasticity, Degeneration of the striatum, Cerebellar atrophy, Dilated fourth ventricle, Abnormali...	ORPHA:276244
Developmental And Epileptic Encephalopathy 56	Broad-based gait, Hypotonia, Action tremor, Ataxia, Poor coordination, Scoliosis	OMIM:617665
Hyperphenylalaninemia, Bh4-Deficient, A	Small for gestational age, Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia,...	OMIM:261640
Spastic Paraplegia 20, Autosomal Recessive	Spastic paraplegia, Spastic paraparesis, Cerebellar atrophy, Difficulty walking, Abnormal cerebel...	OMIM:275900
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Myoclonus, Tremor, Dystonia, Frequent falls, Axial hypotonia	OMIM:619647
Baralle-Macken Syndrome	Spasticity, Global brain atrophy, Neonatal hypotonia, Inability to walk, Obesity, Dystonia, Kyphosis	OMIM:619255
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Generalized hypotonia, Incoordination, Tremor, Pontocerebellar atrophy, Cerebellar hypoplasia, Oc...	OMIM:618060
Gm2-Gangliosidosis, Ab Variant	Cerebral atrophy, Generalized hypotonia, Neurodegeneration, Chorea, Hypotonia, Dystonia, Paralysi...	OMIM:272750
Mepan Syndrome	Spasticity, Hemidystonia, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Chorea, Hypoto...	ORPHA:508093
Mannosidosis, Alpha B, Lysosomal	Thoracolumbar kyphosis, Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Generalized hy...	OMIM:248500
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Gm1-Gangliosidosis, Type Iii	Platyspondyly, Myoclonus, Diffuse cerebral atrophy, Ataxia, Anterior beaking of lumbar vertebrae,...	OMIM:230650
Boucher-Neuhauser Syndrome	Spasticity, Cerebellar atrophy, Abnormal upper motor neuron morphology, Gait ataxia, Ataxia, Spin...	OMIM:215470
Hsd10 Disease	Spastic paraparesis, Frontotemporal cerebral atrophy, Myoclonus, Tremor, Rigidity, Gait disturban...	ORPHA:391417
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu...	ORPHA:240103
Spinocerebellar Ataxia 13	Spasticity, Cerebellar atrophy, Hypotonia, Limb ataxia, Gait ataxia, Limb dysmetria, Myoclonus, A...	OMIM:605259
Atypical Progressive Supranuclear Palsy Syndrome	Blepharospasm, Falls, Bradykinesia, Extrapyramidal muscular rigidity, Speech apraxia, Freezing of...	ORPHA:99750
Spastic Ataxia 5, Autosomal Recessive	Spasticity, Spastic paraparesis, Cerebellar atrophy, Myoclonus, Dysmetria, Spastic ataxia, Oculom...	OMIM:614487
Charcot-Marie-Tooth Disease Type 4A	Vocal cord paresis, Poor fine motor coordination, Generalized neonatal hypotonia, Impaired pain s...	ORPHA:99948
Juvenile Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis, Difficulty walking, Axial dystonia, Opisthotonus, Parkinsonism, Ca...	ORPHA:300605
Spinocerebellar Ataxia 6	Cerebral cortical atrophy, Cerebellar atrophy, Frequent falls, Incoordination, Dysmetria, Loss of...	OMIM:183086
Optic Atrophy 3, Autosomal Dominant	Tremor, Abnormality of extrapyramidal motor function	OMIM:165300
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Tongue fasciculations, Frequent falls, Difficulty walking, Myoclonus, Tremor, Scoliosis, Degenera...	OMIM:159950
Immunodeficiency 83, Susceptibility To Viral Infections	Gliosis, Hemiparesis	OMIM:613002
Spinocerebellar Ataxia Type 42	Upper limb postural tremor, Cerebellar atrophy, Resting tremor, Cerebellar vermis atrophy, Head t...	ORPHA:458803
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Spastic paraplegia, Broad-based gait, Failure to thrive, Difficulty walking, Tremor, Babinski sig...	ORPHA:477673
Neurodegeneration With Brain Iron Accumulation 5	Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Akinesia, Tremor, R...	OMIM:300894
Huntington Disease-Like 2	Cerebral cortical atrophy, Chorea, Action tremor, Rigidity, Dystonia, Weight loss, Bradykinesia	OMIM:606438
Spinocerebellar Ataxia Type 19/22	Broad-based gait, Cerebellar atrophy, Difficulty walking, Limb ataxia, Cogwheel rigidity, Ataxia,...	ORPHA:98772
Tremor, Hereditary Essential, 1	Postural tremor, Action tremor, Hand tremor	OMIM:190300
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Generalized hypotonia, Chorea, Myoclonus, Gait ataxia, Tremor, Truncal ataxia	OMIM:618587
Intellectual Developmental Disorder, X-Linked 82	Scoliosis, Kyphosis	OMIM:300518
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology, Vocal cord paralysis	OMIM:607641
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Generalized hypotonia, Gait ataxia, Myoclonus, Tremor, Impaired tactile sensation, Hypertonia, At...	OMIM:619092
Roussy-Levy Hereditary Areflexic Dystasia	Upper limb postural tremor, Gait ataxia, Action tremor, Distal sensory impairment, Kyphoscoliosis	OMIM:180800
Spinocerebellar Ataxia 4	Cerebellar atrophy, Limb dysmetria, Distal sensory impairment, Babinski sign, Progressive cerebel...	OMIM:600223
Brain Dopamine-Serotonin Vesicular Transport Disease	Shuffling gait, Oculogyric crisis, Generalized hypotonia, Abnormality of coordination, Limb dysto...	ORPHA:352649
Neurodegeneration With Brain Iron Accumulation 3	Blepharospasm, Spasticity, Laryngeal dystonia, Neurodegeneration, Chorea, Tremor, Rigidity, Dysto...	OMIM:606159
Combined Oxidative Phosphorylation Deficiency 58	Ataxia, Cerebellar atrophy, Difficulty walking, Gait ataxia, Myoclonus, Appendicular spasticity, ...	OMIM:620451
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Spasticity, Spastic paraparesis, Cerebellar atrophy, Myoclonus, Dysmetria, Cerebellar hypoplasia,...	ORPHA:313772
Dystonia 12	Bradykinesia, Tremor, Dystonia, Parkinsonism, Torticollis, Unsteady gait	OMIM:128235
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Spasticity, Hemiballismus, Cerebral atrophy, Inability to walk, Hypotonia, Gait ataxia, Myoclonus...	OMIM:618877
Spinocerebellar Ataxia 26	Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia	OMIM:609306
Parkinsonism-Dystonia 1, Infantile-Onset	Oculogyric crisis, Chorea, Cogwheel rigidity, Limb dystonia, Tremor, Rigidity, Hyperkinetic movem...	OMIM:613135
Pelizaeus-Merzbacher Disease	Cerebral cortical atrophy, Spasticity, Failure to thrive in infancy, Hypotonia, Cachexia, Gait di...	ORPHA:702
Hereditary Late-Onset Parkinson Disease	Cerebral cortical atrophy, Shuffling gait, Resting tremor, Akinesia, Rigidity, Dystonia, Parkinso...	ORPHA:411602
Spinocerebellar Ataxia Type 10	Cerebellar atrophy, Generalized hypotonia, Gait imbalance, Gait ataxia, Intention tremor, Dysmetr...	ORPHA:98761
Episodic Ataxia Type 1	Cerebellar atrophy, Tip-toe gait, Kyphoscoliosis, Clumsiness, Hypertonia, Poor coordination, Scol...	ORPHA:37612
Cataract-Ataxia-Deafness Syndrome	Hypertonia, Tremor, Ataxia	ORPHA:1368
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Postural tremor, Hypotonia, Myoclonus,...	OMIM:301072
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome	Cerebellar atrophy, Cerebral atrophy, Gait ataxia, Decreased body weight, Babinski sign, Atrophy ...	ORPHA:445062
Spastic Ataxia, Charlevoix-Saguenay Type	Loss of Purkinje cells in the cerebellar vermis, Spasticity, Falls, Progressive truncal ataxia, C...	OMIM:270550
Spinocerebellar Ataxia, Autosomal Recessive 31	Cerebral atrophy, Tremor, Cerebellar hypoplasia, Lumbar kyphoscoliosis, Ataxia, Dystonia, Choreoa...	OMIM:619422
Spinocerebellar Ataxia Type 36	Loss of Purkinje cells in the cerebellar vermis, Tongue fasciculations, Limb myoclonus, Hand trem...	ORPHA:276198
Ataxia With Vitamin E Deficiency	Dysmetria, Hemiplegia/hemiparesis, Tremor, Abnormal pyramidal sign, Gait disturbance, Hypertonia,...	ORPHA:96
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia	Impaired vibratory sensation, Spastic paraplegia, Cerebellar atrophy, Myoclonus, Babinski sign, A...	OMIM:620538
Spinocerebellar Ataxia Type 8	Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Cerebellar ...	ORPHA:98760
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Cerebral atrophy, Tremor, Ataxia	OMIM:618637
Spinocerebellar Ataxia, Autosomal Recessive 11	Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia	OMIM:614229
Myasthenic Syndrome, Congenital, 16	Gait disturbance, Periodic paralysis, Hyperlordosis	OMIM:614198
Supranuclear Palsy, Progressive, 1	Falls, Cerebral atrophy, Akinesia, Gait imbalance, Retrocollis, Limb dystonia, Tremor, Rigidity, ...	OMIM:601104
Fragile X Tremor/Ataxia Syndrome	Poor fine motor coordination, Cerebellar atrophy, Resting tremor, Postural tremor, Gait ataxia, A...	OMIM:300623
Familial Dyskinesia And Facial Myokymia	Resting tremor, Difficulty walking, Chorea, Myoclonus, Limb hypertonia, Dystonia, Axial hypotonia	ORPHA:324588
Jaberi-Elahi Syndrome	Broad-based gait, Failure to thrive, Inability to walk, Cerebellar vermis atrophy, Hypotonia, Gai...	OMIM:617988
Primary Dystonia, Dyt4 Type	Blepharospasm, Upper limb postural tremor, Involuntary movements, Generalized dystonia, Laryngeal...	ORPHA:98805
Monomelic Amyotrophy	Degeneration of anterior horn cells, Tremor, Fasciculations	ORPHA:65684
Spastic Paraplegia 39, Autosomal Recessive	Cerebellar atrophy, Progressive spastic paraplegia, Babinski sign, Gait disturbance, Atrophy of t...	OMIM:612020
4H Leukodystrophy	Cerebellar atrophy, Tremor, Dysmetria, Abnormality of extrapyramidal motor function, Progressive ...	ORPHA:289494
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Vocal cord paresis, Impaired pain sensation, Fasciculations, Impaired temperature sensation, Hypo...	OMIM:619574
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Difficulty walking, Scoliosis, Kyphosis, Distal sensory impairment	OMIM:617087
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocytosis, Hepatomegaly	OMIM:619644
Congenital Arthrogryposis With Anterior Horn Cell Disease	Abnormal anterior horn cell morphology, Cerebral atrophy, Generalized hypotonia, Difficulty walki...	OMIM:611890
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity	OMIM:610297
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Spasticity, Gait disturbance, Truncal obesity, Scoliosis, Kyphosis	ORPHA:2429
Vocal Cord Paralysis And Ptosis	Vocal cord paralysis	OMIM:193240
Epilepsy, Familial Adult Myoclonic, 3	Difficulty walking, Myoclonus, Tremor	OMIM:613608
Acute Peripheral Arterial Occlusion	Paralysis, Paresthesia, Impaired distal tactile sensation	ORPHA:90064
Kufor-Rakeb Syndrome	Spastic paraplegia, Spasticity, Akinesia, Myoclonus, Distal sensory impairment, Rigidity, Tremor,...	OMIM:606693
Combined Oxidative Phosphorylation Deficiency 32	Spasticity, Cerebellar atrophy, Inability to walk, Hypotonia, Tremor, Kyphoscoliosis, Dystonia, C...	OMIM:617664
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Vocal cord paresis, Broad-based gait, Difficulty walking, Gait ataxia, Distal sensory impairment,...	OMIM:614895
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Cerebral cortical atrophy, Tremor, Gait disturbance, Aplasia/Hypoplasia of the cerebellum, Hyperl...	ORPHA:1192
Allan-Herndon-Dudley Syndrome	Spasticity, Spastic tetraplegia, Small for gestational age, Decreased body mass index, Neonatal h...	ORPHA:59
Non-Specific Early-Onset Epileptic Encephalopathy	Spasticity, Involuntary movements, Failure to thrive, Cerebral atrophy, Generalized hypotonia, Di...	ORPHA:442835
Spinocerebellar Ataxia 21	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Akinesia, Abnor...	OMIM:607454
Spinocerebellar Ataxia Type 18	Cerebellar atrophy, Somatic sensory dysfunction, Head tremor, Gait ataxia, Dysmetria, Titubation	ORPHA:98771
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu...	ORPHA:486
Caribbean Parkinsonism	Cerebral cortical atrophy, Myoclonus, Action tremor, Rigidity, Dystonia, Progressive gait ataxia,...	ORPHA:97355
Combined Oxidative Phosphorylation Deficiency 24	Spasticity, Cerebellar atrophy, Generalized hypotonia, Neurodegeneration, Hypotonia, Gliosis, Neu...	OMIM:616239
Adult-Onset Cervical Dystonia, Dyt23 Type	Cerebral cortical atrophy, Cerebellar atrophy, Difficulty walking, Head tremor, Myoclonus, Axial ...	ORPHA:420492
Spinocerebellar Ataxia Type 1	Progressive cerebellar ataxia, Loss of Purkinje cells in the cerebellar vermis, Cerebellar atroph...	ORPHA:98755
Inherited Creutzfeldt-Jakob Disease	Global brain atrophy, Central nervous system degeneration, Progressive extrapyramidal muscular ri...	ORPHA:282166
Urocanic Aciduria	Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia	ORPHA:210128
Developmental And Epileptic Encephalopathy 32	Hypotonia, Myoclonus, Tremor, Ataxia	OMIM:616366
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Gliosis, Spastic tetraplegia, Tetraplegia, Hypertonia	OMIM:608033
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Hypotonia,...	ORPHA:370022
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Cerebral atrophy, Generalized dystonia, Neurodegeneration, Chorea, Myoclonus, Gait ataxia, Gliosi...	OMIM:618321
Autosomal Recessive Spastic Paraplegia Type 35	Spastic paraplegia, Cerebral cortical atrophy, Dysdiadochokinesis, Cerebellar atrophy, Generalize...	ORPHA:171629
Developmental And Epileptic Encephalopathy 71	Hypotonia, Gliosis	OMIM:618328
Autosomal Recessive Spastic Paraplegia Type 39	Spastic paraplegia, Cerebellar atrophy, Gait ataxia, Babinski sign, Lower limb spasticity, Atroph...	ORPHA:139480
Spastic Paraplegia 9B, Autosomal Recessive	Spastic paraplegia, Spasticity, Cerebral cortical atrophy, Pseudobulbar paralysis, Tremor, Babins...	OMIM:616586
Parkinson Disease 22, Autosomal Dominant	Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Gait d...	OMIM:616710
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Tetraparesis, Cerebral cortical neurodeg...	OMIM:203700
Familial Acute Necrotizing Encephalopathy	Spasticity, Rigidity, Gait disturbance, Gliosis, Hypertonia, Spastic tetraplegia	ORPHA:88619
X-Linked Parkinsonism-Spasticity Syndrome	Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Diffuse cerebra...	ORPHA:363654
Phenylketonuria	Lower limb spasticity, Tremor, Ataxia	ORPHA:716
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cerebellar atrophy, Cerebral atrophy, Hypotonia, Limb dystonia, Gliosis, Neuronal loss in central...	OMIM:604377
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Broad-based gait, Shuffling gait, Resting tremor, Obesity, Tremor, Kyphoscoliosis, Parkinsonism, ...	ORPHA:3077
Combined Oxidative Phosphorylation Deficiency 14	Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Hypotonia, Myoclonus, Diffuse ce...	OMIM:614946
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Head tremor, Tremor, Pontocerebellar atroph...	OMIM:606002
Autosomal Recessive Progressive External Ophthalmoplegia	Shuffling gait, Cerebellar atrophy, Cerebral atrophy, Paresthesia, Cogwheel rigidity, Action trem...	ORPHA:254886
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Spasticity, Shuffling gait, Resting tremor, Akinesia, Gait ataxia, Intention tremor, Rigidity, Ba...	ORPHA:247234
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Intention tremor, Dysmetr...	OMIM:614381
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Gait ataxia, Tremor, Ataxia	OMIM:617831
Neurodegeneration With Brain Iron Accumulation 4	Spasticity, Cerebellar atrophy, Generalized dystonia, Neurodegeneration, Tremor, Abnormality of e...	OMIM:614298
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hypotonia, Broad-based gait, Tremor, Spastic tetraparesis	OMIM:619470
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Ataxia-Oculomotor Apraxia Type 4	Somatic sensory dysfunction, Obesity, Kyphoscoliosis, Oculomotor apraxia, Ataxia, Dystonia	ORPHA:459033
Glut1 Deficiency Syndrome 2	Cerebral atrophy, Tremor, Ataxia, Dystonia, Choreoathetosis	OMIM:612126
Intellectual Developmental Disorder, Autosomal Recessive 48	Inability to walk, Tremor, Waddling gait	OMIM:616269
Spinocerebellar Ataxia Type 3	Abnormality of extrapyramidal motor function, Clumsiness, Abnormal pyramidal sign, Vocal cord par...	ORPHA:98757
Spinocerebellar Ataxia 36	Tongue fasciculations, Cerebellar atrophy, Fasciculations, Incoordination, Hypotonia, Limb ataxia...	OMIM:614153
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri...	OMIM:607688
Cdkl5-Deficiency Disorder	Impaired pain sensation, Abnormal muscle tone, Difficulty walking, Gait disturbance, Scoliosis, K...	ORPHA:505652
Horner Syndrome, Congenital	Paralysis	OMIM:143000
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Falls, Tremor, Rigidity, Dystonia, Parkinsonism with favorable response to dopaminergic medicatio...	ORPHA:240085
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Frequent falls, Short neck, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity	OMIM:300718
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Cerebellar atrophy, Tip-toe gait, Neonatal hypotonia, Frequent falls, Difficulty walking, Hypoton...	OMIM:606612
Supranuclear Palsy, Progressive, 2	Falls, Postural tremor, Gait imbalance, Akinesia, Retrocollis, Axial dystonia, Rigidity, Parkinso...	OMIM:609454
Primary Dystonia, Dyt2 Type	Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr...	ORPHA:99657
Pelizaeus-Merzbacher Disease, Classic Form	Spasticity, Difficulty walking, Head tremor, Hypotonia, Abnormality of extrapyramidal motor funct...	ORPHA:280219
Epilepsy, Familial Adult Myoclonic, 4	Myoclonus, Tremor	OMIM:615127
Late-Infantile/Juvenile Krabbe Disease	Spastic paraparesis, Acroparesthesia, Difficulty walking, Hemiplegia, Spastic diplegia, Tremor, I...	ORPHA:206443
Ataxia-Oculomotor Apraxia 4	Impaired vibratory sensation, Cerebellar atrophy, Obesity, Oculomotor apraxia, Abnormal pyramidal...	OMIM:616267
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebellar atrophy, Cerebral atrophy, Dysmetria, Tremor, Diffuse cerebral atrophy, Limb hypertoni...	OMIM:617710
Postencephalitic Parkinsonism	Involuntary movements, Oculogyric crisis, Resting tremor, Akinesia, Paresthesia, Cogwheel rigidit...	ORPHA:97349
Neuronal Intranuclear Inclusion Disease	Somatic sensory dysfunction, Tremor, Rigidity, Gait disturbance, Ataxia	OMIM:603472
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Cerebellar atrophy, Abnormal cerebellum morphology, Gait ataxia, Dysmetria, T...	OMIM:618056
X-Linked Dystonia-Parkinsonism	Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Progressive extrapyramidal muscular r...	ORPHA:53351
Developmental And Epileptic Encephalopathy 42	Generalized hypotonia, Tremor, Hypertonia, Ataxia, Athetosis	OMIM:617106
Cerebrotendinous Xanthomatosis	Spasticity, Spastic paraparesis, Resting tremor, Parkinsonism, Paraparesis, Abnormal pyramidal si...	ORPHA:909
Proximal Myopathy With Extrapyramidal Signs	Involuntary movements, Resting tremor, Progressive extrapyramidal muscular rigidity, Difficulty w...	ORPHA:401768
Pontocerebellar Hypoplasia, Type 17	Cerebellar vermis hypoplasia, Kyphosis, Hypoplasia of the pons, Paroxysmal dystonia, Patent ductu...	OMIM:619909
Srd5A3-Cdg	Cerebellar atrophy, Abnormal cerebellum morphology, Infantile muscular hypotonia, Ataxia, Abnorma...	ORPHA:324737
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Decreased body weight, Small for gestational age, Kyphosis, Waddling gait	OMIM:618392
Autosomal Dominant Spastic Paraplegia Type 9A	Falls, Impaired vibration sensation in the lower limbs, Abnormal cerebellum morphology, Tremor, L...	ORPHA:447753
Diabetes Insipidus, Neurohypophyseal	Gliosis	OMIM:125700
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Oculogyric crisis, Cerebral palsy, Tremor, Rigidity, Dystonia, Limb hypertonia, Bradykinesia, Sma...	ORPHA:70594
Hereditary Butyrylcholinesterase Deficiency	Paralysis	ORPHA:132
Multiple System Atrophy	Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py...	ORPHA:102
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Spastic paraplegia, Inability to walk, Ankle clonus, Babinski sign, Exaggerated startle response,...	OMIM:609541
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Truncal titubation, Generalized hypotonia, Impaired vibration sensation in the lower limbs, Gait ...	ORPHA:88628
Parkinson Disease 17	Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:614203
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Impaired vibratory sensation, Vocal cord paresis, Impaired pain sensation, Abnormality of the ver...	ORPHA:101097
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dystonia	OMIM:605909
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Cryptor...	OMIM:612541
Spinocerebellar Ataxia 10	Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Limb fasciculations, Dysmetria, Dis...	OMIM:603516
Charcot-Marie-Tooth Disease, Type 4K	Difficulty walking, Dystonia, Kyphoscoliosis, Ataxia	OMIM:616684
Parkinson-Dementia Syndrome	Tremor, Rigidity, Kyphoscoliosis, Parkinsonism, Abnormal pyramidal sign	OMIM:260540
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Spastic paraplegia, Tip-toe gait, Cerebral atrophy, Abnormal astrocyte morphology, Tremor, Babins...	ORPHA:83629
Multiple System Atrophy, Cerebellar Type	Broad-based gait, Resting tremor, Postural tremor, Limb ataxia, Gait ataxia, Axial dystonia, Rigi...	ORPHA:227510
Parkinsonism With Polyneuropathy	Resting tremor, Rigidity, Diffuse cerebral atrophy, Parkinsonism with favorable response to dopam...	OMIM:619279
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Impaired vibratory sensation, Cerebellar atrophy, Impaired pain sensation, Cerebellar vermis atro...	OMIM:614575
Spinocerebellar Ataxia With Epilepsy	Myoclonus, Gait ataxia, Dysmetria, Tremor, Dystonia, Dysdiadochokinesis, Progressive cerebellar a...	ORPHA:254881
Spinocerebellar Ataxia 27A	Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Abno...	OMIM:193003
Severe Neurodegenerative Syndrome With Lipodystrophy	Poor motor coordination, Spasticity, Cerebral atrophy, Tetraparesis, Gait ataxia, Myoclonus, Trem...	ORPHA:363400
Alpha-Methylacyl-Coa Racemase Deficiency	Spasticity, Tremor, Hemiparesis, Ataxia, Intention tremor	OMIM:614307
Migraine, Familial Hemiplegic, 2	Cerebellar atrophy, Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apr...	OMIM:602481
Dentatorubral Pallidoluysian Atrophy	Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Gait ataxia, Action tremor...	ORPHA:101
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Somatic sensory dysfunction, Inability to walk, Limb fasciculations, Tremor, Distal sensory impai...	ORPHA:90117
Leigh Syndrome	Spasticity, Involuntary movements, Cerebellar atrophy, Failure to thrive, Chorea, Olivopontocereb...	ORPHA:506
Adult-Onset Autosomal Dominant Leukodystrophy	Spasticity, Tetraparesis, Action tremor, Distal sensory impairment, Abnormal pyramidal sign, Clon...	ORPHA:99027
Myopathy With Extrapyramidal Signs	Difficulty walking, Cerebellar dysplasia, Chorea, Hypotonia, Tremor, Abnormality of extrapyramida...	OMIM:615673
Developmental And Epileptic Encephalopathy 46	Failure to thrive, Cerebral atrophy, Tremor, Limb hypertonia, Axial hypotonia	OMIM:617162
Rett Syndrome	Cerebral cortical atrophy, Spasticity, Gait ataxia, Cachexia, Gait apraxia, Truncal ataxia, Dysto...	OMIM:312750
Lissencephaly, X-Linked, 2	Hypotonia, Spasticity, Gliosis, Generalized hypotonia	OMIM:300215
Horizontal Gaze Palsy With Progressive Scoliosis	Short neck, Scoliosis, Kyphosis	ORPHA:2744
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Cerebellar vermis atrophy, Head tremor, Gait imbalance, Postural tre...	ORPHA:64753
Multiple System Atrophy, Parkinsonian Type	Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py...	ORPHA:98933
Parastremmatic Dwarfism	Short neck, Scoliosis, Kyphosis	OMIM:168400
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Cerebral atrophy, Episodic ataxia, Generalized hypotonia, Hypotonia, M...	OMIM:312170
Brown-Vialetto-Van Laere Syndrome 1	Tongue fasciculations, Hypotonia, Gait imbalance, Abnormal cerebellum morphology, Ankle clonus, C...	OMIM:211530
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Generalized hypotonia, Cerebellar vermis atrophy, Hypotonia, Gait ataxia, Tremor, Abdominal obesi...	OMIM:300354
Parkinson Disease 14, Autosomal Recessive	Upper limb postural tremor, Spasticity, Global brain atrophy, Pill-rolling tremor, Resting tremor...	OMIM:612953
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Akinesia, Freezing of gait, Rigidity, Dystonia, Clumsiness, Park...	OMIM:619911
Basal Ganglia Disease, Biotin-Thiamine Responsive	Truncal titubation, Tetraparesis, Inability to walk, Chorea, Gait ataxia, Action tremor, Cogwheel...	OMIM:607483
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebral cortical atrophy, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Fasciculati...	OMIM:620327
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Cerebellar atrophy, Cerebral atrophy, Generalized hypotonia, Difficulty walking, Speech apraxia, ...	OMIM:615356
Hyperphenylalaninemia, Bh4-Deficient, B	Generalized hypotonia, Hypotonia, Tremor, Rigidity, Hyperkinetic movements, Severe muscular hypot...	OMIM:233910
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism	OMIM:300886
Ataxia With Vitamin E Deficiency	Cerebellar atrophy, Positive Romberg sign, Dysmetria, Impaired proprioception, Clumsiness, Gait d...	OMIM:277460
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Hypotonia, Tremor, Ataxia, Generalized cerebral atrophy/hypoplasia, Bradykinesia,...	ORPHA:36387
Acromesomelic Dysplasia, Maroteaux Type	Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Hyperlordo...	ORPHA:40
Charcot-Marie-Tooth Disease Type 4C	Tongue fasciculations, Vocal cord paresis, Facial paralysis, Impaired pain sensation, Cerebellar ...	ORPHA:99949
Variegate Porphyria	Paralysis	OMIM:176200
Neuropathy, Hereditary, With Liability To Pressure Palsies	Hypoesthesia, Hand paresthesia, Vocal cord paralysis	OMIM:162500
Spastic Paraplegia 9A, Autosomal Dominant	Impaired vibratory sensation, Spastic paraplegia, Resting tremor, Abnormal upper motor neuron mor...	OMIM:601162
Lethal Congenital Contracture Syndrome 8	Hypotonia, Vocal cord paralysis, Distal sensory impairment	OMIM:616287
Primary Angiitis Of The Central Nervous System	Tetraparesis, Hemiparesis, Paralysis, Parkinsonism, Paraparesis, Ataxia	ORPHA:140989
Charcot-Marie-Tooth Disease And Deafness	Tremor, Steppage gait, Gait disturbance, Distal sensory impairment	OMIM:118300
Attrv30M Amyloidosis	Cardiomegaly, Abnormal autonomic nervous system physiology, Cardiomyopathy	ORPHA:85447
Neuroferritinopathy	Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Difficulty walking, Chorea, L...	ORPHA:157846
Myasthenic Syndrome, Congenital, 25, Presynaptic	Hypotonia, Severe muscular hypotonia, Scoliosis, Kyphosis, Spinal rigidity	OMIM:618323
Immunodeficiency 32B	Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopenia, Thrombocytopen...	OMIM:226990
Aicardi-Goutieres Syndrome 6	Loss of ambulation, Dystonia, Tremor, Rigidity	OMIM:615010
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Sialidosis Type 2	Generalized hypotonia, Kyphosis, Tremor, Ataxia	ORPHA:87876
Autosomal Recessive Spastic Paraplegia Type 9B	Cerebral cortical atrophy, Spasticity, Tip-toe gait, Postural tremor, Kyphoscoliosis, Babinski si...	ORPHA:447760
Gillespie Syndrome	Cerebellar atrophy, Generalized hypotonia, Postural tremor, Cerebellar hypoplasia, Ataxia, Slurre...	OMIM:206700
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Inability to walk, Chorea, Myoclonus, Ac...	ORPHA:404454
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Parkinsonism, Ataxia, Bradykinesi...	OMIM:619725
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Optic disc pallor, Perimembranous ventricular septal defect	OMIM:619170
Saccharopinuria	Tremor, Gait ataxia, Distal sensory impairment, Spastic diplegia	ORPHA:3124
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
X-Linked Intellectual Disability, Stocco Dos Santos Type	Small for gestational age, Kyphosis	ORPHA:85288
Flynn-Aird Syndrome	Cerebral cortical atrophy, Impaired pain sensation, Cachexia, Ataxia, Scoliosis, Kyphosis	ORPHA:2047
Pick Disease Of Brain	Gliosis, Neuronal loss in central nervous system	OMIM:172700
Hemifacial Atrophy, Progressive	Kyphosis, Ataxia	OMIM:141300
Primary Non-Essential Cutis Verticis Gyrata	Scoliosis, Gliosis	ORPHA:357225
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Spasticity, Inability to walk, Tremor, Infantile muscular hypotonia, Brain atrophy	OMIM:618718
Parkinson Disease, Late-Onset	Short stepped shuffling gait, Resting tremor, Tremor, Rigidity, Dystonia, Substantia nigra gliosi...	OMIM:168600
Glutathionuria	Action tremor, Dysdiadochokinesis, Tremor	OMIM:231950
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Spasticity, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Obesity, Hypotonia, Cerebell...	OMIM:618443
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E...	OMIM:618052
Congenital Disorder Of Glycosylation, Type Ie	Failure to thrive, Generalized hypotonia, Hypotonia, Pontocerebellar atrophy, Tremor, Ataxia, Pat...	OMIM:608799
Brachyolmia Type 1, Hobaek Type	Platyspondyly, Kyphosis, Squared-off platyspondyly, Intervertebral space narrowing, Thoracic scol...	OMIM:271530
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu...	ORPHA:983
Bethlem Myopathy 2	Hypotonia, Scoliosis, Kyphosis, Generalized hypotonia	OMIM:616471
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Difficulty walking, Impaired vibration sensation in the lower limbs, Head tremor, Gait ataxia, Sp...	ORPHA:95433
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom...	OMIM:619802
Sialidosis Type 1	Abnormal form of the vertebral bodies, Hypotonia, Myoclonus, Tremor, Gait disturbance, Ataxia, Sc...	ORPHA:812
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Platyspondyly, Spasticity, Spastic tetraplegia, Difficulty walking, Neu...	OMIM:618476
Attrv122I Amyloidosis	Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal enteric ...	ORPHA:85451
Riboflavin Transporter Deficiency	Cerebral cortical atrophy, Hypotonia, Myoclonus, Tremor, Cachexia, Ataxia	ORPHA:97229
Adducted Thumbs Syndrome	Myelin-dependent gliosis, Generalized hypotonia	OMIM:201550
Sjögren-Larsson Syndrome	Spasticity, Hypotonia, Abnormal pyramidal sign, Scoliosis, Kyphosis, Spastic diplegia	ORPHA:816
Autism Spectrum Disorder Due To Auts2 Deficiency	Spasticity, Small for gestational age, Cerebral palsy, Generalized hypotonia, Hypertonia, Scolios...	ORPHA:352490
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis, Cerebral atrophy	OMIM:618453
Combined Oxidative Phosphorylation Deficiency 54	Impaired vibratory sensation, Obesity, Tremor, Hemiparesis, Hypertonia, Hypoesthesia, Scoliosis	OMIM:619737
Xeroderma Pigmentosum, Complementation Group F	Tremor, Decreased body weight, Ataxia, Scoliosis, Brain atrophy	OMIM:278760
Aceruloplasminemia	Blepharospasm, Involuntary movements, Chorea, Limb ataxia, Gait ataxia, Akinesia, Tremor, Rigidit...	ORPHA:48818
Pyruvate Dehydrogenase Deficiency	Spasticity, Cerebral palsy, Hypotonia, Tremor, Abnormal pyramidal sign, Gait disturbance, Ataxia,...	ORPHA:765
Mitochondrial Complex I Deficiency, Nuclear Type 2	Falls, Difficulty walking, Hypotonia, Ankle clonus, Gliosis, Dystonia	OMIM:618222
X-Linked Adrenoleukodystrophy	Somatic sensory dysfunction, Progressive spastic paraparesis, Incoordination, Hemiparesis, Clumsi...	ORPHA:43
Neurodegeneration With Brain Iron Accumulation 2B	Spasticity, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Chorea, Gait ataxia, Intenti...	OMIM:610217
Borjeson-Forssman-Lehmann Syndrome	Cervical spinal canal stenosis, Generalized hypotonia, Obesity, Hypotonia, Scheuermann-like verte...	OMIM:301900
Subacute Inflammatory Demyelinating Polyneuropathy	Somatic sensory dysfunction, Difficulty walking, Positive Romberg sign, Distal sensory impairment...	ORPHA:206594
Intellectual Developmental Disorder, Autosomal Dominant 26	Small for gestational age, Cerebral palsy, Generalized hypotonia, Hypertonia, Scoliosis, Kyphosis	OMIM:615834
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Neutrophilia, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Monocytosis, Hepatomegaly,...	OMIM:620565
Dystonia-Deafness Syndrome 1	Oculogyric crisis, Generalized dystonia, Pseudobulbar paralysis, Leg dystonia, Kyphoscoliosis, Lo...	OMIM:607371
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Hypotonia, Obesity, Scoliosis, Kyphosis	ORPHA:276630
Developmental And Epileptic Encephalopathy 4	Spastic paraplegia, Cerebral atrophy, Hypotonia, Tremor, Spastic tetraplegia, Choreoathetosis	OMIM:612164
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Kyphosis, Cerebellar atrophy, Cerebral atrophy, Hypotonia, Scoliosis, Patent ductus arteriosus	OMIM:619797
Osteomesopyknosis	Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis	ORPHA:2777
Cerebral Cavernous Malformations 3	Paralysis	OMIM:603285
Syngap1-Related Developmental And Epileptic Encephalopathy	Hypotonia, Tremor, Gait disturbance, Abnormality of pain sensation, Ataxia, Poor coordination	ORPHA:544254
Congenital Disorder Of Deglycosylation 1	Pain insensitivity, Involuntary movements, Chorea, Hypotonia, Myoclonus, Action tremor, Dysmetria...	OMIM:615273
Mohr-Tranebjaerg Syndrome	Shuffling gait, Global brain atrophy, Generalized dystonia, Inability to walk, Tremor, Ankle clon...	ORPHA:52368
Parkinson Disease 20, Early-Onset	Short stepped shuffling gait, Involuntary movements, Shuffling gait, Cerebral cortical atrophy, T...	OMIM:615530
Parkinson Disease 7, Autosomal Recessive Early-Onset	Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab...	OMIM:606324
Myopathy, Mitochondrial, And Ataxia	Generalized hypotonia, Difficulty walking, Inability to walk, Limb ataxia, Dysmetria, Distal sens...	OMIM:617675
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Progressive extrapyramidal muscular rigidity, Hemiplegia, Chorea, Infantile axial...	ORPHA:225147
Spontaneous Periodic Hypothermia	Gait disturbance, Tremor, Ataxia	ORPHA:29822
4Q21 Microdeletion Syndrome	Hypotonia, Tremor, Cerebellar hypoplasia, Short neck, Scoliosis, Kyphosis	ORPHA:238750
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Falls, Progressive extrapyramidal muscular rigidity, Akinesia, Gait imbalance, Axi...	ORPHA:240071
Tremor, Nystagmus, And Duodenal Ulcer	Kinetic tremor, Abnormal cerebellum morphology, Tremor	OMIM:190310
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Shuffling gait, Fasciculations, Tremor, Loss of ambulation, Waddling gait	ORPHA:209335
Ataxia-Telangiectasia	Spasticity, Failure to thrive, Tremor, Gait disturbance, Ataxia	ORPHA:100
Amyotrophic Lateral Sclerosis	Spasticity, Amyotrophic lateral sclerosis, Fasciculations, Neurodegeneration, Babinski sign, Para...	ORPHA:803
X-Linked Intellectual Disability Due To Gria3 Mutations	Pain insensitivity, Cerebellar vermis hypoplasia, Spasticity, Retrocerebellar cyst, Slender build...	ORPHA:364028
Dystonia 13, Torsion, Autosomal Dominant	Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula...	OMIM:607671
Perry Syndrome	Short stepped shuffling gait, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Weight loss, Br...	OMIM:168605
Familial Cervical Artery Dissection	Paralysis, Paresthesia	ORPHA:36382
Ullrich Congenital Muscular Dystrophy	Frequent falls, Generalized hypotonia, Short neck, Torticollis, Scoliosis, Kyphosis, Spinal rigidity	ORPHA:75840
Hypermanganesemia With Dystonia 1	Spastic paraparesis, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Dystonia, Pa...	OMIM:613280
Kleefstra Syndrome Due To A Point Mutation	Failure to thrive, Large for gestational age, Hypotonia, Cerebellar hypoplasia, Gliosis	ORPHA:261652
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Periodic paralysis, Hand tremor	OMIM:609153
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Tremor, Distal sensory impairment	OMIM:607734
Gm1 Gangliosidosis	Platyspondyly, Spasticity, Abnormal form of the vertebral bodies, Generalized dystonia, Failure t...	ORPHA:354
46,Xy Sex Reversal 3	Clitoral hypertrophy, Gonadal dysgenesis, Ambiguous genitalia, Exaggerated rugosity of the labia ...	OMIM:612965
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Molybdenum Cofactor Deficiency, Type B	Cerebral atrophy, Hypotonia, Diffuse cerebral atrophy, Opisthotonus, Gliosis, Myoclonic spasms, H...	OMIM:252160
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Cerebral cortical atrophy, Spasticity, Hypoplasia of the pons, Myoclonus, Vocal cord paralysis, D...	ORPHA:500144
Congenital Toxoplasmosis	Anemia, Hepatomegaly, Cardiomegaly, Thrombocytopenia	ORPHA:858
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen...	OMIM:618986
Cockayne Syndrome	Spasticity, Cerebellar dentate nucleus calcification, Cerebellar atrophy, Somatic sensory dysfunc...	ORPHA:191
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Somatic sensory dysfunction, Generalized hypotonia, Difficulty walking, Dysmetria, Tremor, Cerebe...	ORPHA:502423
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Global brain atrophy, Tetraparesis, Hypotonia, Tremor, Rigidity, Cerebellar edema, Torticollis, A...	OMIM:617186
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebellar vermis hypoplasia, Cerebellar atrophy, Cerebral atrophy, Difficulty walking, Infantile...	ORPHA:572798
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss, Periodic paralysis, Tremor	OMIM:613239
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Tip-toe gait, Frequent falls, Difficulty walking, Hyperlordosis, Vertebral fusion, Scoliosis, Kyp...	OMIM:607155
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hemiplegia, Gait disturbance, Scoliosis, Kyphosis	ORPHA:2181
Hypokalemic Periodic Paralysis	Respiratory paralysis, Paralysis, Periodic hypokalemic paresis	ORPHA:681
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Kyphosis, Hypoplasia of the pons, Cerebellar atrophy, Dysmetria, Cerebellar hypoplasia, Head titu...	OMIM:619708
Infantile Sialic Acid Storage Disease	Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly	OMIM:269920
Perry Syndrome	Parkinsonism, Weight loss, Tremor, Abnormality of extrapyramidal motor function	ORPHA:178509
Multiple System Atrophy 1, Susceptibility To	Neurodegeneration, Tremor, Rigidity, Olivopontocerebellar atrophy, Babinski sign, Parkinsonism, A...	OMIM:146500
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit...	ORPHA:168563
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Hypotonia, Gait disturbance, Kyphosis	ORPHA:1875
X-Linked Emery-Dreifuss Muscular Dystrophy	Kyphosis, Tip-toe gait, Obesity, Hypotonia, Short neck, Gait disturbance, Hyperlordosis, Vocal co...	ORPHA:98863
Charcot-Marie-Tooth Disease Type 4B2	Tip-toe gait, Difficulty walking, Inability to walk, Paresthesia, Distal sensory impairment, Kyph...	ORPHA:99956
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno...	ORPHA:2138
Neurooculocardiogenitourinary Syndrome	Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s...	OMIM:618652
Intellectual Disability-Developmental Delay-Contractures Syndrome	Oculomotor apraxia, Scoliosis, Kyphosis	ORPHA:3454
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Sneddon Syndrome	Chorea, Tremor, Hemiparesis	ORPHA:820
3-Methylglutaconic Aciduria, Type Viib	Spasticity, Cerebellar atrophy, Neonatal hypotonia, Cerebral atrophy, Hypotonia, Myoclonus, Tremo...	OMIM:616271
Japanese Encephalitis	Pill-rolling tremor, Cogwheel rigidity, Myoclonus, Tremor, Abnormality of extrapyramidal motor fu...	ORPHA:79139
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Spasticity, Cerebellar atrophy, Resting tremor, Cerebral atrophy, Head tremor, Babinski sign, Neu...	ORPHA:314404
Wieacker-Wolff Syndrome	Spasticity, Cerebral atrophy, Generalized hypotonia, Hypotonia, Short neck, Oculomotor apraxia, A...	OMIM:314580
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Broad-based gait, Inability to walk, Hypotonia, Axonal degeneration, Vocal cord paralysis	OMIM:615490
Joubert Syndrome	Cerebellar vermis hypoplasia, Abnormal form of the vertebral bodies, Hypotonia, Tremor, Oculomoto...	ORPHA:475
Waisman Syndrome	Shuffling gait, Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favo...	OMIM:311510
Neuraminidase Deficiency	Cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foa...	OMIM:256550
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Cerebellar vermis hypoplasia, Spasticity, Cerebellar atrophy, Generalized hypotonia, Gait imbalan...	OMIM:300966
46,Xy Sex Reversal 11	Vanishing testis, Aplasia of the uterus, Urogenital sinus anomaly, Gonadal dysgenesis with female...	OMIM:273250
Molybdenum Cofactor Deficiency, Type A	Cerebral atrophy, Abnormal muscle tone, Opisthotonus, Gliosis, Myoclonic spasms, Spastic tetrapar...	OMIM:252150
Emery-Dreifuss Muscular Dystrophy	Kyphosis, Tip-toe gait, Obesity, Hypotonia, Gait disturbance, Hyperlordosis, Vocal cord paralysis...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Kyphosis, Tip-toe gait, Obesity, Hypotonia, Gait disturbance, Hyperlordosis, Vocal cord paralysis...	ORPHA:98853
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly	ORPHA:615
Congenitally Uncorrected Transposition Of The Great Arteries	Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo...	ORPHA:860
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Hypotonia, Myoclonus, Tremor, Loss of ambulation, Diffuse cerebral atrophy, R...	OMIM:607426
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Scoliosis, Kyphosis	OMIM:300434
Epilepsy, Familial Adult Myoclonic, 2	Blepharospasm, Myoclonus, Tremor, Ataxia	OMIM:607876
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Cerebral cortical atrophy, Spasticity, Large for gestational age, Hypotonia, Cerebellar hypoplasi...	OMIM:300868
Ck Syndrome	Generalized hypotonia, Slender build, Hyperlordosis, Scoliosis, Kyphosis	OMIM:300831
Alg1-Cdg	Cerebellar atrophy, Cerebral atrophy, Hypotonia, Scoliosis, Kyphosis	ORPHA:79327
Progressive Multifocal Leukoencephalopathy	Somatic sensory dysfunction, Abnormal astrocyte morphology, Paresthesia, Gait ataxia, Dysmetria, ...	ORPHA:217260
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Cerebral cortical atrophy, Apraxia, Parkinsonism, Gliosis, Neuronal loss in central nervous system	OMIM:607485
Leydig Cell Hypoplasia	Male hypogonadism, Hypoplasia of the Leydig cells, Abnormal external genitalia, Cryptorchidism, T...	ORPHA:755
Parkinson Disease 23, Autosomal Recessive Early-Onset	Cerebral cortical atrophy, Spasticity, Resting tremor, Akinesia, Limb dystonia, Rigidity, Parkins...	OMIM:616840
Glioblastoma	Paralysis, Glioblastoma multiforme	ORPHA:360
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Obesity, Kyphosis, Hyperlordosis, Cerebellar atrophy	ORPHA:3085
Joubert Syndrome With Renal Defect	Cerebellar vermis hypoplasia, Hypotonia, Tremor, Gait disturbance, Oculomotor apraxia, Ataxia, Sc...	ORPHA:220497
Scapuloperoneal Spinal Muscular Atrophy	Broad-based gait, Distal sensory impairment, Hyperlordosis, Torticollis, Scoliosis, Kyphosis	OMIM:181405
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Spasticity, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Generalized hypotonia, Hypot...	OMIM:124000
Fliedner-Zweier Syndrome	Cerebellar atrophy, Obesity, Hypotonia, Hypertonia, Scoliosis, Kyphosis	OMIM:620511
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Optic atrophy, Cardiomegaly, Pericardial effusion	OMIM:614702
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Kyphosis, Scoliosis, Hyperlordosis	OMIM:600175
Spongiform Encephalopathy With Neuropsychiatric Features	Parkinsonism, Gliosis	OMIM:606688
Microcephalic Primordial Dwarfism, Montreal Type	Scoliosis, Kyphosis, Hypertonia, Vertebral segmentation defect	ORPHA:2617
Myopathic Ehlers-Danlos Syndrome	Tip-toe gait, Failure to thrive, Neonatal hypotonia, Hypotonia, Kyphoscoliosis, Hyperlordosis, Sc...	ORPHA:536516
Arnold-Chiari Malformation Type I	Progressive cerebellar ataxia, Somatic sensory dysfunction, Gait ataxia, Cervical C2/C3 vertebral...	ORPHA:268882
Amyloidosis, Hereditary Systemic 1	Spasticity, Spastic paraparesis, Paraplegia, Limb ataxia, Positive Romberg sign, Tremor, Hemipare...	OMIM:105210
Zimmermann-Laband Syndrome 3	Patent ductus arteriosus, Kyphosis, Generalized hypotonia	OMIM:618658
Aromatic L-Amino Acid Decarboxylase Deficiency	Oculogyric crisis, Failure to thrive, Hypotonia, Tremor, Babinski sign, Limb hypertonia, Dystonia	ORPHA:35708
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Impaired vibratory sensation, Tongue tremor, Somatic sensory dysfunction, Tip-toe gait, Fascicula...	ORPHA:466768
Proximal 16P11.2 Microduplication Syndrome	Decreased body mass index, Failure to thrive, Hypotonia, Tremor, Hemivertebrae, Scoliosis	ORPHA:370079
Cockayne Syndrome Type 2	Difficulty walking, Lower limb spasticity, Gait disturbance, Limb hypertonia, Ataxia, Scoliosis, ...	ORPHA:90322
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hypotonia, Scoliosis, Kyphosis, Failure to thrive	OMIM:618234
Mohr-Tranebjaerg Syndrome	Dystonia, Spasticity, Tremor	OMIM:304700
Parkinson Disease 8, Autosomal Dominant	Resting tremor, Rigidity, Substantia nigra gliosis, Parkinsonism, Parkinsonism with favorable res...	OMIM:607060
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphosis, Generalized hypotonia, Hypotonia, Kyphoscoliosis, Scoliosis, Small for gestational age	OMIM:618484
Joubert Syndrome With Ocular Defect	Abnormal vertebral morphology, Cerebellar vermis hypoplasia, Hypotonia, Tremor, Oculomotor apraxi...	ORPHA:220493
Plaa-Associated Neurodevelopmental Disorder	Failure to thrive, Hypotonia, Abnormality of extrapyramidal motor function, Rigidity, Progressive...	ORPHA:521426
Hemochromatosis, Type 1	Cardiomyopathy, Azoospermia, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, Hepatomeg...	OMIM:235200
Combined Oxidative Phosphorylation Deficiency 18	Hypotonia, Tremor, Dysmetria	OMIM:615578
Asparagine Synthetase Deficiency	Cerebellar vermis hypoplasia, Global brain atrophy, Hypoplasia of the pons, Failure to thrive, Di...	OMIM:615574
Winchester Syndrome	Kyphosis	OMIM:277950
Leukoencephalopathy With Ataxia	Limb ataxia, Gait ataxia, Action tremor	OMIM:615651
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy	OMIM:600649
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor	ORPHA:66633
Multiple Acyl-Coa Dehydrogenase Deficiency	Inability to walk, Gliosis, Hypotonia, Hyperlordosis	ORPHA:26791
Wieacker-Wolff Syndrome, Female-Restricted	Spasticity, Generalized hypotonia, Inability to walk, Brain atrophy, Short neck, Oculomotor aprax...	OMIM:301041
Alexander Disease	Spasticity, Failure to thrive, Chorea, Hypotonia, Tremor, Short neck, Abnormal pyramidal sign, Cl...	ORPHA:58
Myopathy, Centronuclear, 2	Neonatal hypotonia, Hyperlordosis, Scoliosis, Kyphosis, Waddling gait	OMIM:255200
Congenital Disorder Of Glycosylation, Type Ia	Cerebellar vermis hypoplasia, Kyphosis, Cerebellar atrophy, Failure to thrive, Olivopontocerebell...	OMIM:212065
Kleefstra Syndrome 2	Hypotonia, Scoliosis, Kyphosis, Generalized hypotonia	OMIM:617768
Neurodegeneration With Brain Iron Accumulation 1	Blepharospasm, Spasticity, Global brain atrophy, Neurodegeneration, Akinesia, Cerebral degenerati...	OMIM:234200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Kyphosis, Axonal degeneration, Waddling gait	OMIM:618138
Adult-Onset Distal Myopathy Due To Vcp Mutation	Fasciculations, Difficulty walking, Tremor, Parkinsonism, Frequent falls, Back pain	ORPHA:329478
Congenital Myopathy 15	Hypotonia, Vocal cord paralysis, Waddling gait	OMIM:620161
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Hyperkalemic Periodic Paralysis	Cerebral palsy, Fasciculations, Periodic hyperkalemic paralysis, Paresthesia, Gait disturbance, H...	ORPHA:682
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Cardiomegaly	OMIM:618838
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Left atrial e...	OMIM:300280
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Cerebellar atrophy, Postural tremor, Myoclonus, Gait ataxia, Action tremor, Unsteady gait, Intent...	OMIM:254900
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis	OMIM:609384
Rett Syndrome, Congenital Variant	Spasticity, Neonatal hypotonia, Generalized hypotonia, Chorea, Apraxia, Dystonia, Athetosis, Scol...	OMIM:613454
Glossopharyngeal Neuralgia	Chiari type I malformation, Abnormality of the cervical spine, Weight loss, Vocal cord paralysis,...	ORPHA:221098
Congenital Tricuspid Valve Dysplasia	Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ...	ORPHA:555874
O'Donnell-Luria-Rodan Syndrome	Kyphosis, Generalized hypotonia	OMIM:618512
Fixed Subaortic Stenosis	Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep...	ORPHA:3092
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Spastic paraplegia, Spasticity, Dysmetria, Tremor, Babinski sign, Ataxia	OMIM:618527
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Broad-based gait, Obesity, Gait imbalance, Myoclonus, Tremor, Infantile muscular hypotonia, Ataxi...	ORPHA:98794
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Spasticity, Inability to walk, Hypotonia, Decreased body weight, Dystonia, Limb hypertonia, Corpu...	OMIM:620371
Triosephosphate Isomerase Deficiency	Spasticity, Failure to thrive, Cerebral atrophy, Generalized hypotonia, Hypotonia, Tremor, Dyston...	OMIM:615512
Toxin-Mediated Infectious Botulism	Diaphragmatic paralysis, Paralysis, Cerebral palsy	ORPHA:230800
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Cerebellar vermis hypoplasia, Spasticity, Failure to thrive, Hypotonia, Tremor, Dysmetria, Gliosi...	OMIM:220111
Spondylocostal Dysostosis 3, Autosomal Recessive	Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Vertebral segme...	OMIM:609813
East Syndrome	Cerebellar atrophy, Difficulty walking, Inability to walk, Action tremor, Ataxia	ORPHA:199343
Dystonia 2, Torsion, Autosomal Recessive	Blepharospasm, Torsion dystonia, Tremor, Torticollis	OMIM:224500
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov...	OMIM:277000
Mitochondrial Dna Depletion Syndrome 11	Cerebellar atrophy, Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity	OMIM:615084
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Kyphosis, Tip-toe gait, Obesity, Hypotonia, Gait disturbance, Hyperlordosis, Waddling gait, Scoli...	ORPHA:98855
Hypokalemic Periodic Paralysis, Type 1	Hypotonia, Periodic paralysis	OMIM:170400
Typhoid	Tremor, Hypertonia, Ataxia	ORPHA:99745
Hypokalemic Periodic Paralysis, Type 2	Periodic paralysis	OMIM:613345
Glutaryl-Coa Dehydrogenase Deficiency	Poor motor coordination, Chorea, Pallidal degeneration, Limb dystonia, Tremor, Rigidity, Severe m...	ORPHA:25
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Cardiomegaly	OMIM:619064
Adult-Onset Dystonia-Parkinsonism	Progressive extrapyramidal movement disorder, Spasticity, Frontotemporal cerebral atrophy, Myoclo...	ORPHA:199351
Mitochondrial Myopathy And Sideroblastic Anemia	Hypotonia, Scoliosis, Kyphosis	ORPHA:2598
Hall-Riggs Syndrome	Platyspondyly, Failure to thrive, Scoliosis, Kyphosis, Irregular vertebral endplates	OMIM:234250
Ullrich Congenital Muscular Dystrophy 1A	Failure to thrive, Neonatal hypotonia, Slender build, Torticollis, Scoliosis, Kyphosis, Spinal ri...	OMIM:254090
46,Xy Sex Reversal 7	Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon...	OMIM:233420
Pseudo-Torch Syndrome 3	Anemia, Cardiomegaly, Leukocytosis, Congenital thrombocytopenia	OMIM:618886
Crisponi Syndrome	Scoliosis, Kyphosis, Hypertonia	ORPHA:1545
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Cerebral cortical atrophy, Broad-based gait, Small for gestational age, Failure to thrive in infa...	ORPHA:268261
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Pericardial constriction, Myocardial fibrosis	OMIM:253250
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Hypotonia, Scoliosis, Kyphosis	ORPHA:1548
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular...	ORPHA:1916
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe...	OMIM:115197
Congenital Disorder Of Glycosylation, Type Il	Global brain atrophy, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Hypotonia, Short n...	OMIM:608776
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Cerebellar hypoplasia, Severe muscular h...	OMIM:618291
Complete Androgen Insensitivity Syndrome	Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus...	ORPHA:99429
Fucosidosis	Spasticity, Spastic tetraplegia, Failure to thrive, Hypotonia, Abnormal pyramidal sign, Anterior ...	ORPHA:349
Cardiac-Urogenital Syndrome	Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Micropenis, Atrial septal d...	OMIM:618280
Sickle Cell Disease	Splenic infarction, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Target cell...	OMIM:603903
Fetal Akinesia Deformation Sequence 4	Short neck, Kyphosis	OMIM:618393
Carnitine Deficiency, Systemic Primary	Cardiomyopathy, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Cardiomegaly, Hepatomegaly	OMIM:212140
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Vocal cord paralysis	ORPHA:2375
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect, Cardiomegaly, O...	OMIM:620609
Parkinson Disease 21	Parkinsonism, Bradykinesia, Tremor, Rigidity	OMIM:616361
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Bifid scrotum, Bilateral cryptorchidism, Azoospermia, Aplasia of the ovary,...	ORPHA:90797
D-Bifunctional Protein Deficiency	Cerebellar atrophy, Neonatal hypotonia, Failure to thrive, Hypotonia, Corpus callosum atrophy, Gl...	OMIM:261515
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly	OMIM:619051
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Cerebellar atrophy, Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity	ORPHA:352447
Den Hoed-De Boer-Voisin Syndrome	Spasticity, Global brain atrophy, Inability to walk, Obesity, Hypotonia, Myoclonus, Tremor, Decre...	OMIM:619229
Schaaf-Yang Syndrome	Neonatal hypotonia, Inability to walk, Failure to thrive in infancy, Obesity, Scoliosis, Kyphosis	OMIM:615547
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly	OMIM:252920
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Slender build, Hypotonia, Scoliosis, Kyphosis	OMIM:300676
Snakebite Envenomation	Respiratory paralysis, Paralysis, Pseudobulbar paralysis	ORPHA:449285
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paralysis, Hypotonia, Generalized hypotonia	OMIM:612300
Ciliary Dyskinesia, Primary, 53	Polysplenia, Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricul...	OMIM:620642
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Cerebellar vermis hypoplasia, Spasticity, Hypoplasia of the pons, Failure to thrive, Neurodegener...	OMIM:620455
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Fasciculations	OMIM:313200
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss, Periodic paralysis	OMIM:188580
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Neonatal hypotonia, Generalized hypotonia, Hypotonia, Gait ataxia, Tremor, Lumbar scoliosis, Cere...	OMIM:300998
Intellectual Developmental Disorder, Autosomal Dominant 54	Cerebellar atrophy, Inability to walk, Hypotonia, Hyperkinetic movements, Lower limb spasticity, ...	OMIM:617799
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Cerebral cortical atrophy, Failure to thrive, Hypotonia, Rigidity, Abnormality of extrapyramidal ...	OMIM:617527
Spondylometaphyseal Dysplasia, Kozlowski Type	Platyspondyly, Hypoplasia of the odontoid process, Vertebral wedging, Abnormality of the vertebra...	ORPHA:93314
Spondylometaphyseal Dysplasia, X-Linked	Platyspondyly, Thoracolumbar scoliosis, Kyphosis	OMIM:313420
Micro Syndrome	Cerebellar vermis hypoplasia, Spasticity, Cerebral cortical atrophy, Hypotonia, Abnormal cerebell...	ORPHA:2510
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Mitral valve prolapse, Cardiomegaly, Abnormal atrioventricular valve morph...	ORPHA:324410
Arthrogryposis, Distal, Type 5	Scoliosis, Kyphosis, Hypertonia	OMIM:108145
12Q14 Microdeletion Syndrome	Chiari malformation, Failure to thrive, Hypotonia, Tremor, Scoliosis	ORPHA:94063
Gaucher Disease, Type Iiic	Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val...	OMIM:231005
Tick-Borne Encephalitis	Tongue fasciculations, Abnormal medulla oblongata morphology, Somatic sensory dysfunction, Incoor...	ORPHA:297
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Spastic paraparesis, Difficulty walking, Astrocytosis, Action tremor, Rigidity, Dystonia, Gait di...	ORPHA:309854
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C...	ORPHA:2041
Emanuel Syndrome	Failure to thrive, Cerebral atrophy, Hypotonia, Patent ductus arteriosus, Torticollis, Dandy-Walk...	OMIM:609029
Heart Defects-Limb Shortening Syndrome	Kyphosis, Abnormal form of the vertebral bodies	ORPHA:1354
Aorta Coarctation	Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ...	ORPHA:1457
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Cerebral cortical atrophy, Cerebellar atrophy, Large for gestational age, Hypotonia, Gait ataxia,...	OMIM:617011
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Platyspondyly, Kyphosis	ORPHA:2786
X-Linked Intellectual Disability, Cabezas Type	Broad-based gait, Obesity, Tremor, Short neck, Cachexia, Scoliosis, Kyphosis	ORPHA:85293
O'Sullivan-Mcleod Syndrome	Atrophy of the spinal cord, Tremor, Fasciculations	ORPHA:99965
Autosomal Dominant Progressive External Ophthalmoplegia	Cerebellar atrophy, Resting tremor, Failure to thrive, Generalized hypotonia, Gait ataxia, Cogwhe...	ORPHA:254892
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Hypotonia, Scoliosis, Kyphosis, Generalized hypotonia	OMIM:130060
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Spasticity, Oculogyric crisis, Tremor, Oculomotor apraxia, Ataxia, Dystonia, Frequent falls, Chor...	OMIM:612716
Hyperlysinemia	Poor motor coordination, Tip-toe gait, Failure to thrive, Dysmetria, Tremor, Neck hypertonia, Opi...	ORPHA:2203
Papillorenal Syndrome	Chiari type I malformation, Scoliosis, Gliosis	OMIM:120330
Joubert Syndrome With Hepatic Defect	Cerebellar vermis hypoplasia, Hypotonia, Tremor, Gait disturbance, Oculomotor apraxia, Aplasia/Hy...	ORPHA:1454
Testicular Agenesis	Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge...	ORPHA:325124
Mcdonough Syndrome	Cachexia, Scoliosis, Kyphosis	ORPHA:2471
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Neonatal hypotonia, Generalized hypotonia, Speech apraxia, Slender build, Hypotonia, Tremor, Kyph...	OMIM:300967
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Parkinsonism, Bradykinesia, Resting tremor, Rigidity	OMIM:614251
Typical Nemaline Myopathy	Neonatal hypotonia, Short neck, Gait disturbance, Hyperlordosis, Waddling gait, Scoliosis, Kyphos...	ORPHA:171436
Mogs-Cdg	Optic atrophy, Hepatosplenomegaly, External genital hypoplasia, Cardiomegaly, Left ventricular hy...	ORPHA:79330
Hypomelanosis Of Ito	Scoliosis, Kyphosis, Cerebral atrophy	OMIM:300337
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Pain insensitivity, Kyphosis, Hypotonia, Tremor, Scoliosis, Patent ductus arteriosus	OMIM:617061
Timothy Syndrome	Tetralogy of Fallot, Cardiomegaly, Patent foramen ovale, Ventricular septal defect	OMIM:601005
Pseudohypoaldosteronism Type 2	Periodic paralysis	ORPHA:757
Gm1-Gangliosidosis, Type I	Hypotonia, Hypoplastic vertebral bodies, Short neck, Beaking of vertebral bodies, Hypertonia, Cer...	OMIM:230500
Niemann-Pick Disease Type C	Speech apraxia, Limb dystonia, Axial dystonia, Frontal cortical atrophy, Abnormal pyramidal sign,...	ORPHA:646
Hydatidiform Mole	Anemia, Enlarged uterus	ORPHA:99927
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Spasticity, Cerebellar atrophy, Cerebral atrophy, Generalized hypotonia, Large for gestational ag...	OMIM:614080
Poliomyelitis	Fasciculations, Inability to walk, Paresthesia, Hyperkinetic movements, Paralysis, Paraparesis	ORPHA:2912
Non-Functioning Paraganglioma	Weight loss, Vocal cord paralysis, Tremor	ORPHA:94080
Foodborne Botulism	Diaphragmatic paralysis, Paralysis, Cerebral palsy	ORPHA:228371
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Spasticity, Hypertonia, Tremor, Rigidity	OMIM:176500
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion	OMIM:239850
Pheochromocytoma/Paraganglioma Syndrome 2	Vocal cord paralysis	OMIM:601650
Zimmermann-Laband Syndrome 2	Hypotonia, Short neck, Kyphosis, Generalized hypotonia	OMIM:616455
Metachromatic Leukodystrophy	Tip-toe gait, Incoordination, Tremor, Dystonia, Gait disturbance, Infantile muscular hypotonia, A...	ORPHA:512
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig...	ORPHA:439
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary...	OMIM:614841
Spondyloepiphyseal Dysplasia Congenita	Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Generalized hypotoni...	OMIM:183900
Idiopathic Juvenile Osteoporosis	Vertebral compression fracture, Gait disturbance, Kyphosis	ORPHA:85193
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Paralysis	ORPHA:83601
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Opisthotonus, Hypertonia, Tremor	OMIM:250800
Tetanus	Tremor, Rigidity, Opisthotonus, Spasticity of pharyngeal muscles, Hypertonia	ORPHA:3299
Intellectual Developmental Disorder, Autosomal Dominant 23	Kyphosis, Scoliosis, Hyperlordosis, Sacral dimple	OMIM:615761
Coffin-Lowry Syndrome	Cerebral cortical atrophy, Abnormal form of the vertebral bodies, Hypotonia, Gait disturbance, Ap...	ORPHA:192
Metatropic Dysplasia	Platyspondyly, Anisospondyly, Hypoplasia of the odontoid process, Caudal appendage, Long coccyx, ...	OMIM:156530
Mucopolysaccharidosis, Type Iva	Platyspondyly, Hypoplasia of the odontoid process, Lumbar kyphosis, Short neck, Hyperlordosis, An...	OMIM:253000
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia, Cardiomegaly	ORPHA:99931
Mucopolysaccharidosis, Type Ivb	Platyspondyly, Hypoplasia of the odontoid process, Hyperlordosis, Ataxia, Cervical subluxation, S...	OMIM:253010
Pelger-Huet Anomaly	Kyphosis, Failure to thrive, Lower limb hypertonia	OMIM:169400
Desbuquois Dysplasia 1	Platyspondyly, Generalized hypotonia, Obesity, Hypotonia, Short neck, Hyperlordosis, Scoliosis, K...	OMIM:251450
Congenital Myopathy 22A, Classic	Neonatal hypotonia, Generalized hypotonia, Hypotonia, Thoracic scoliosis, Waddling gait, Scoliosi...	OMIM:620351
Autosomal Dominant Optic Atrophy And Cataract	Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Extrapyramidal muscular rigidity...	ORPHA:67036
Metatropic Dysplasia	Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Abnormal intervertebral di...	ORPHA:2635
Mullerian Aplasia And Hyperandrogenism	Aplasia of the uterus, Abnormal external genitalia, Aplasia of the fallopian tube, Aplasia of the...	OMIM:158330
Young-Onset Parkinson Disease	Spasticity, Gait imbalance, Tremor, Rigidity, Dystonia, Bradykinesia	ORPHA:2828
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Tremor, Ataxia	ORPHA:713
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Optic atrophy, Cardiomegaly	ORPHA:391428
Arthrogryposis, Distal, Type 4	Lumbar scoliosis, Scoliosis, Kyphosis, Torticollis	OMIM:609128
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Failure to thrive, Gait ataxia, Tremor, Scoliosis, Kyphosis	ORPHA:476126
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Hypoplasia of the vagi...	ORPHA:3109
Alternating Hemiplegia Of Childhood	Failure to thrive, Episodic hemiplegia, Tetraparesis, Chorea, Hypotonia, Tremor, Rigidity, Abnorm...	ORPHA:2131
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly, Micropenis, Hypospadias	OMIM:616897
Early Infantile Epileptic Encephalopathy	Spasticity, Cerebellar atrophy, Failure to thrive, Episodic ataxia, Myoclonus, Tremor, Diffuse ce...	ORPHA:1934
Double Outlet Left Ventricle	Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valv...	ORPHA:3427
2P15P16.1 Microdeletion Syndrome	Failure to thrive, Generalized hypotonia, Hypotonia, Cerebellar hypoplasia, Gait disturbance, Low...	ORPHA:261349
Encephalocraniocutaneous Lipomatosis	Cerebral cortical atrophy, Spasticity, Cerebral atrophy, Hemiplegia, Rigidity, Hemiparesis, Paral...	ORPHA:2396
Purine Nucleoside Phosphorylase Deficiency	Failure to thrive, Tetraparesis, Generalized hypotonia, Hypotonia, Tremor, Ataxia, Spastic diplegia	OMIM:613179
Cono-Spondylar Dysplasia	Failure to thrive, Hypotonia, Short neck, Poor coordination, Scoliosis, Kyphosis	ORPHA:420794
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy...	OMIM:306955
Gabriele-De Vries Syndrome	Hypotonia, Tremor, Gliosis, Facial hypotonia, Dystonia, Small for gestational age, Waddling gait	ORPHA:506358
Pyruvate Carboxylase Deficiency	Tip-toe gait, Failure to thrive, Generalized hypotonia, Hypotonia, Tremor, Abnormal pyramidal sig...	ORPHA:3008
Dpagt1-Cdg	Cerebral cortical atrophy, Global brain atrophy, Failure to thrive, Inability to walk, Infantile ...	ORPHA:86309
Ataxia-Telangiectasia	Failure to thrive, Inability to walk, Myoclonus, Intention tremor, Tremor, Ataxia, Dystonia, Slur...	OMIM:208900
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis	OMIM:170500
Thyrotoxic Periodic Paralysis	Periodic hypokalemic paresis, Obesity, Tremor, Respiratory paralysis, Paralysis, Weight loss, Tet...	ORPHA:79102
Shashi-Pena Syndrome	Kyphosis, Hypotonia, Cervical C2/C3 vertebral fusion, Limb hypertonia, Scoliosis, Patent ductus a...	OMIM:617190
Porphyria, Acute Intermittent	Respiratory paralysis, Paralysis, Paresthesia	OMIM:176000
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Cerebral cortical atrophy, Difficulty walking, Slender build, Lumbar hyperlordosis, Large for ges...	ORPHA:457359
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Short neck, Scoliosis, Kyphosis	ORPHA:178148
Hip Dysplasia, Beukes Type	Scoliosis, Kyphosis	ORPHA:2114
Smith-Mccort Dysplasia 1	Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Short neck, Beaking ...	OMIM:607326
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Cervical spinal canal stenosis, Gener...	ORPHA:508533
Multiple Acyl-Coa Dehydrogenase Deficiency	Hypotonia, Gliosis	OMIM:231680
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cardiomegaly	ORPHA:42
Trisomy 13	Chiari malformation, Kyphosis, Hypotonia, Scoliosis, Patent ductus arteriosus	ORPHA:3378
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis	OMIM:145260
Combined Oxidative Phosphorylation Deficiency 15	Incoordination, Obesity, Hypotonia, Tremor, Abnormal pyramidal sign, Ataxia, Unsteady gait	OMIM:614947
Marden-Walker Syndrome	Inferior cerebellar vermis hypoplasia, Generalized hypotonia, Hypotonia, Cerebellar hypoplasia, S...	OMIM:248700
Thanatophoric Dysplasia	Platyspondyly, Kyphosis, Hypotonia, Abnormal sacroiliac joint morphology, Patent ductus arteriosus	ORPHA:2655
Gitelman Syndrome	Paralysis, Paresthesia, Failure to thrive, Ataxia	OMIM:263800
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Failure to thrive, Tremor, Ataxia	OMIM:201100
Weaver Syndrome	Spasticity, Generalized hypotonia, Hypotonia, Cerebellar hypoplasia, Patent ductus arteriosus, Hy...	OMIM:277590
Refsum Disease, Classic	Cardiomegaly, Cardiomyopathy	OMIM:266500
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Failure to thrive, Generalized hypotonia, Hypotonia, Intention tremor, Tremor, Ataxia, Small for ...	OMIM:614052
Orofaciodigital Syndrome Type 6	Cerebellar vermis hypoplasia, Failure to thrive, Generalized hypotonia, Hypotonia, Tremor, Gait d...	ORPHA:2754
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Thoracolumbar kyphosis, Spastic paraplegia, Broad-based gait, Limb ataxia, Appendicular hypotonia...	ORPHA:2072
15Q24 Microdeletion Syndrome	Kyphosis, Failure to thrive, Obesity, Hypotonia, Scoliosis, Small for gestational age	ORPHA:94065
19P13.12 Microdeletion Syndrome	Aplasia/Hypoplasia of the cerebellar vermis, Obesity, Hypotonia, Short neck, Scoliosis, Kyphosis	ORPHA:254346
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Scoliosis, Kyphosis	ORPHA:1858
Alpha-Mannosidosis	Hypotonia, Short neck, Scoliosis, Kyphosis	ORPHA:61
Developmental Malformations-Deafness-Dystonia Syndrome	Scoliosis, Kyphosis, Generalized dystonia	ORPHA:79107
Pycnodysostosis	Spondylolysis, Chiari malformation, Spondylolisthesis, Hyperlordosis, Upper motor neuron dysfunct...	ORPHA:763
Tyrosinemia Type 2	Tremor, Ataxia	ORPHA:28378
Weismann-Netter Syndrome	Scoliosis, Horizontal sacrum, Kyphosis	OMIM:112350
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy	OMIM:617713
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatosplenomegaly, Azoospermia, Splenomegaly, Mitral valve prolapse, Ventricular septal defect, ...	OMIM:602782
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Kyphosis, Distal sensory impairment	OMIM:151800
Spondyloepiphyseal Dysplasia Congenita	Platyspondyly, Kyphosis, Lumbar hyperlordosis, Short neck, Waddling gait, Cervical instability, S...	ORPHA:94068
Megalocornea-Intellectual Disability Syndrome	Hypotonia, Scoliosis, Kyphosis, Ataxia	ORPHA:2479
Diastrophic Dysplasia	Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Hypotonia, Scoliosis, Kyph...	ORPHA:628
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Large for gestational age, Kyphosis, Sacral dimple	OMIM:618272
Clark-Baraitser syndrome	Obesity, Scoliosis, Kyphosis	OMIM:300602
Cowden Syndrome 1	Dysplastic gangliocytoma of the cerebellum, Scoliosis, Kyphosis, Intention tremor	OMIM:158350
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis	OMIM:266810
Inhalational Botulism	Paralysis	ORPHA:254504
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, Hepatomegaly, Testicul...	ORPHA:465508
Chromosome 3Q13.31 Deletion Syndrome	Hypotonia, Kyphosis	OMIM:615433
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Aniso...	OMIM:618278
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ...	OMIM:612199
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Generalized hypotonia, Inability to walk, Obesity, Unsteady gait, Scoliosis, Kyphosis	OMIM:618493
Subaortic Stenosis-Short Stature Syndrome	Short neck, Scoliosis, Kyphosis, Obesity	ORPHA:3191
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Spasticity, Failure to thrive, Hypotonia, Tremor, Babinski sign, Hypertonia, Brain atrophy	OMIM:616539
Paramyotonia Congenita Of Von Eulenburg	Neonatal hypotonia, Periodic hypokalemic paresis	ORPHA:684
Thanatophoric Dysplasia Type 2	Platyspondyly, Hypotonia, Patent ductus arteriosus, Kyphosis	ORPHA:93274
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Cardiomegaly, Hypertrophic cardiomyopathy	OMIM:201475
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Scoliosis, Kyphosis	OMIM:259440
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Right atrial enlargement	OMIM:614473
Lateral Meningocele Syndrome	Chiari malformation, Abnormal form of the vertebral bodies, Hypotonia, Short neck, Hyperlordosis,...	ORPHA:2789
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,...	OMIM:313400
Helsmoortel-Van Der Aa Syndrome	Failure to thrive, Obesity, Hypotonia, Hyperlordosis, Truncal obesity, Gliosis, Scoliosis	OMIM:615873
Achondroplasia	Thoracolumbar kyphosis, Cervical spinal canal stenosis, Lumbar hyperlordosis, Obesity, Infantile ...	ORPHA:15
Sandhoff Disease	Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Orthostatic hypotension	OMIM:268800
Mucopolysaccharidosis Type 4	Platyspondyly, Spinal canal stenosis, Short neck, Gait disturbance, Hyperlordosis, Scoliosis, Kyp...	ORPHA:582
Renal Tubular Acidosis Iii	Periodic paralysis	OMIM:267200
3C Syndrome	Hypotonia, Short neck, Aplasia/Hypoplasia of the cerebellum, Hemivertebrae, Scoliosis, Kyphosis, ...	ORPHA:7
Andersen-Tawil Syndrome	Periodic hyperkalemic paralysis, Periodic paralysis, Scoliosis, Periodic hypokalemic paresis	ORPHA:37553
Cirrhotic Cardiomyopathy	Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Hepatomegaly, Right atrial e...	ORPHA:57777
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Failure to thrive, Neonatal hypotonia, Hypotonia, Gait disturbance, Overweight, Scoliosis, Kyphosis	ORPHA:500055
46,Xx Sex Reversal 2	Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, True hermaphroditism, Ovo...	OMIM:278850
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Optic atrophy, Cardiomyopathy	OMIM:619259
Laryngeal Abductor Paralysis	Vocal cord paralysis	OMIM:150260
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Spasticity, Broad-based gait, Neurodegeneration, Decreased body weight, Progressive spastic quadr...	OMIM:619475
Pseudoachondroplasia	Platyspondyly, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Lumbar hyperlordosis...	OMIM:177170
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ...	ORPHA:363705
Basel-Vanagaite-Smirin-Yosef Syndrome	Spasticity, Cerebral atrophy, Hypotonia, Scoliosis, Kyphosis	OMIM:616449
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Ichthyosis, Congenital, Autosomal Recessive 2	Paralysis	OMIM:242100
Trisomy 20P	Platyspondyly, Abnormal form of the vertebral bodies, Incoordination, Hypotonia, Vertebral segmen...	ORPHA:261318
Lateral Meningocele Syndrome	Hypotonia, Biconcave vertebral bodies, Chiari type I malformation, Short neck, Patent ductus arte...	OMIM:130720
Anaplastic Thyroid Carcinoma	Weight loss, Vocal cord paralysis	ORPHA:142
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Rift Valley Fever	Hemiparesis, Paralysis, Paraparesis, Decerebrate rigidity, Back pain	ORPHA:319251
Cutis Laxa, Autosomal Recessive, Type Iid	Gliosis, Generalized hypotonia, Failure to thrive, Kyphoscoliosis	OMIM:617403
Frank-Ter Haar Syndrome	Beaking of vertebral bodies, Scoliosis, Kyphosis	ORPHA:137834
Thrombocytopenia-Absent Radius Syndrome	Tetralogy of Fallot, Aplasia of the uterus, Abnormal cardiac septum morphology, Thrombocytopenia	ORPHA:3320
Danon Disease	Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia...	OMIM:300257
Complete Atrioventricular Septal Defect	Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph...	ORPHA:1329
Aicardi-Goutières Syndrome	Spasticity, Spastic paraparesis, Degeneration of the striatum, Difficulty walking, Extrapyramidal...	ORPHA:51
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Oculogyric crisis, Cerebral palsy, Tremor, Parkinsonism, Hypertonia, Axial hypotonia	ORPHA:1578
3-Methylglutaconic Aciduria, Type Viii	Failure to thrive, Cerebral atrophy, Generalized hypotonia, Hypotonia, Tremor, Clonus, Hypertonia...	OMIM:617248
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis	ORPHA:77300
Marshall-Smith Syndrome	Atlantoaxial dislocation, Hypoplasia of the odontoid process, Failure to thrive, Cerebral atrophy...	OMIM:602535
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Uterus didelphys, Septate vagina, Pseudopapilledema, Aplasia of the vagina, Aplasia of the uterus	OMIM:146255
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Short neck, Kyphosis, Hyperlordosis, Fused cervical vertebrae	ORPHA:2522
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Platyspondyly, Thoracolumbar kyphosis, Small for gestational age, Kyphoscoliosis, Abnormal curvat...	ORPHA:93360
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Distal 16P11.2 Microdeletion Syndrome	Obesity, Neonatal hypotonia, Kyphosis	ORPHA:261222
African Trypanosomiasis	Involuntary movements, Somatic sensory dysfunction, Fasciculations, Difficulty walking, Abnormal ...	ORPHA:3385
Distal Triplication 15Q	Kyphosis, Large for gestational age, Hypotonia, Scoliosis, Patent ductus arteriosus, Dandy-Walker...	ORPHA:314588
Rhizomelic Syndrome, Urbach Type	Short neck, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:3098
Cowden Syndrome 5	Scoliosis, Kyphosis, Intention tremor	OMIM:615108
Urban-Rogers-Meyer Syndrome	Short neck, Obesity, Kyphosis	ORPHA:3409
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Brachial plexus neuropathy, Right ventricular hypertrophy	ORPHA:268
Basel-Vanagaite-Smirin-Yosef Syndrome	Spasticity, Cerebral atrophy, Difficulty walking, Inability to walk, Hypotonia, Scoliosis, Kyphosis	ORPHA:464738
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Uterus didelphys, Abnormal heart morphology, Septate vagina, Aplasia of the uterus, Vaginal atresia	ORPHA:2237
Harrod Syndrome	Cerebral cortical atrophy, Scoliosis, Kyphosis, Failure to thrive	ORPHA:2115
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Cardiomegaly	OMIM:255120
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Spasticity, Cerebral atrophy, Hypotonia, Kyphoscoliosis, Hemivertebrae, Infantile muscular hypoto...	OMIM:301040
Lumbar Syndrome	Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u...	ORPHA:83628
Cockayne Syndrome A	Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Tremor, Gait disturbance, Ataxia, Kyphosis	OMIM:216400
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect	OMIM:617022
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Male hypogonadism, Precocious puberty in females, Bifid scrotum, Bilateral cryptorchidism, Ovaria...	ORPHA:90793
Naxos Disease	Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly...	OMIM:601214
Gaucher Disease, Perinatal Lethal	Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:608013
Cowden Syndrome 6	Scoliosis, Kyphosis, Intention tremor	OMIM:615109
Cockayne Syndrome B	Small for gestational age, Failure to thrive, Cerebral atrophy, Tremor, Severe failure to thrive,...	OMIM:133540
Ruvalcaba Syndrome	Scoliosis, Kyphosis	OMIM:180870
Bruck Syndrome 1	Platyspondyly, Scoliosis, Vertebral wedging, Kyphosis	OMIM:259450
Myofibrillar Myopathy 10	Kyphosis	OMIM:619040
Wolf-Hirschhorn Syndrome	Abnormal vertebral morphology, Abnormality of the vertebral column, Abnormal form of the vertebra...	ORPHA:280
Intellectual Developmental Disorder, Autosomal Dominant 73	Cerebellar vermis hypoplasia, Spasticity, Tip-toe gait, Cerebellar vermis atrophy, Lumbar hyperlo...	OMIM:620450
Oculopharyngodistal Myopathy 1	Difficulty walking, Tremor, Weight loss, Ataxia, Brain atrophy	OMIM:164310
Cockayne Syndrome Type 3	Cerebellar dentate nucleus calcification, Difficulty walking, Brain atrophy, Astrocytosis, Intent...	ORPHA:90324
Sporadic Pheochromocytoma/Secreting Paraganglioma	Weight loss, Vocal cord paralysis, Tremor	ORPHA:276621
Brachyolmia Type 3	Platyspondyly, Short neck, Scoliosis, Kyphosis	OMIM:113500
Orofaciodigital Syndrome Iii	Myoclonus, Kyphosis	OMIM:258850
Autosomal Recessive Spondylocostal Dysostosis	Abnormal form of the vertebral bodies, Vertebral segmentation defect, Short neck, Spina bifida oc...	ORPHA:2311
Andersen Cardiodysrhythmic Periodic Paralysis	Periodic paralysis, Scoliosis, Periodic hypokalemic paresis	OMIM:170390
Prader-Willi Syndrome	Impaired pain sensation, Class III obesity, Generalized hypotonia, Failure to thrive in infancy, ...	OMIM:176270
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Kyphosis, Generalized hypotonia, Hypotonia, Caudal interpedicular narrowing, Scoliosis, Posterior...	OMIM:603546
Dyggve-Melchior-Clausen Disease	Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Short neck, Beaking of v...	OMIM:223800
Schwartz-Jampel Syndrome	Platyspondyly, Blepharospasm, Abnormally straight spine, Decreased body weight, Short neck, Gait ...	ORPHA:800
Mend Syndrome	Failure to thrive, Sacral dimple, Hypotonia, Axial hypotonia, Hypertonia, Kyphosis, Dandy-Walker ...	OMIM:300960
Koolen-De Vries Syndrome	Small for gestational age, Failure to thrive, Generalized hypotonia, Spondylolisthesis, Patent du...	OMIM:610443
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Abnormal vagina morp...	ORPHA:168558
Atelis Syndrome 2	Sacral dimple, Patent ductus arteriosus, Kyphosis, Dysmetria	OMIM:620185
Thanatophoric Dysplasia Type 1	Platyspondyly, Kyphosis, Hypotonia, Abnormal sacroiliac joint morphology, Patent ductus arteriosus	ORPHA:1860
Spondyloenchondrodysplasia	Platyspondyly, Chorea, Kyphosis, Spasticity	ORPHA:1855
Weismann-Netter Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3344
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly, Glandular hypospadias	OMIM:620306
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial...	OMIM:261740
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Abnormal vagina morp...	ORPHA:289548
Paternal Uniparental Disomy Of Chromosome 6	Precocious puberty, Labial hypertrophy, Cryptorchidism, Ventricular septal defect, Cardiomegaly, ...	ORPHA:96191
Mucopolysaccharidosis, Type Vii	Platyspondyly, Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Anterior beaking of lo...	OMIM:253220
Bruck Syndrome	Platyspondyly, Scoliosis, Kyphosis	ORPHA:2771
Stickler Syndrome, Type I	Platyspondyly, Spondylolisthesis, Morbus Scheuermann, Beaking of vertebral bodies, Scoliosis, Kyp...	OMIM:108300
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased T cell count, Hepatomegaly, Cardiomegal...	OMIM:620376
Camurati-Engelmann Disease	Abnormality of the vertebral column, Slender build, Cachexia, Hyperlordosis, Ataxia, Scoliosis, K...	ORPHA:1328
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ...	OMIM:620066
Cantú Syndrome	Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology	ORPHA:1517
Becker Nevus Syndrome	Spina bifida occulta, Scoliosis, Kyphosis	ORPHA:64755
Mgat2-Cdg	Kyphosis, Failure to thrive, Generalized hypotonia, Hypotonia, Brain atrophy, Scoliosis, Patent d...	ORPHA:79329
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Hypoplastic vertebral bodies, Hemivertebrae, Vertebral fus...	ORPHA:2916
Cowden Syndrome	Failure to thrive, Abnormal cerebellum morphology, Ataxia, Scoliosis, Kyphosis	ORPHA:201
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Cardiomegaly, Enlarged kidney, Dilated cardiomyopathy	OMIM:608836
Intellectual Developmental Disorder, Autosomal Dominant 57	Tip-toe gait, Failure to thrive, Generalized hypotonia, Scoliosis, Kyphosis	OMIM:618050
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Scoliosis, Kyphosis	ORPHA:1883
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula...	OMIM:245600
Fountain Syndrome	Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3219
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s...	ORPHA:1478
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Hypotonia, Scoliosis, Kyphosis	ORPHA:404440
Myasthenic Syndrome, Congenital, 20, Presynaptic	Hypotonia, Scoliosis, Kyphosis	OMIM:617143
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Cardiomegaly, Cryptorchidism	OMIM:618143
Trisomy 9P	Short neck, Scoliosis, Kyphosis, Sacral dimple	ORPHA:236
Difference Of Sex Development-Intellectual Disability Syndrome	Spina bifida occulta, Short neck, Kyphosis	ORPHA:2983
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly, Ventricular septal defect	OMIM:614921
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy	ORPHA:308552
Mend Syndrome	Failure to thrive, Generalized hypotonia, Sacral dimple, Limb hypertonia, Kyphosis, Dandy-Walker ...	ORPHA:401973
Foxg1 Syndrome Due To 14Q12 Microdeletion	Hypotonia, Scoliosis, Kyphosis	ORPHA:261144
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Short neck, Kyphosis	ORPHA:3082
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Hypotonia, Corpus callosum atrophy, Kyphosis, Cerebral atrophy	OMIM:619244
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Cerebral cortical atrophy, Small for gestational age, Failure to thrive, Abnormality of the cervi...	ORPHA:464311
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Kyphosis, Axial hypotonia, Thoracic scoliosis	OMIM:603387
Magel2-Related Prader-Willi-Like Syndrome	Failure to thrive, Neonatal hypotonia, Impaired temperature sensation, Increased body weight, Inf...	ORPHA:398069
Ruvalcaba Syndrome	Abnormal vertebral epiphysis morphology, Scoliosis, Kyphosis	ORPHA:3121
Monosomy 9Q22.3	Chiari malformation, Abnormality of the vertebral column, Large for gestational age, Hypotonia, S...	ORPHA:77301
Zttk Syndrome	Spasticity, Failure to thrive, Neonatal hypotonia, Hypotonia, Cerebellar hypoplasia, Patent ductu...	OMIM:617140
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy	ORPHA:158687
Mucopolysaccharidosis Type 6	Short neck, Failure to thrive, Kyphosis, Ovoid vertebral bodies	ORPHA:583
Mucolipidosis Iii Gamma	Kyphosis, Short neck, Scoliosis, Hyperlordosis	OMIM:252605
3M Syndrome	Increased vertebral height, Short neck, Hyperlordosis, Scoliosis, Kyphosis	ORPHA:2616
Truncus Arteriosus	Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Ventricular sept...	ORPHA:3384
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy	OMIM:208000
Fucosidosis	Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly	OMIM:230000
Beckwith-Wiedemann Syndrome	Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Cryptorchidism, Cardiom...	OMIM:130650
Histiocytoid Cardiomyopathy	Optic atrophy, Polycystic ovaries, Cardiomegaly, Ventricular septal defect, Hepatomegaly	ORPHA:137675
X-Linked Intellectual Disability, Snyder Type	Involuntary movements, Inability to walk, Myoclonus, Kyphoscoliosis, Infantile muscular hypotonia...	ORPHA:3063
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Cardiomegaly, Abnormal myocardium morphology, Cardiomyopathy	ORPHA:228308
Holt-Oram Syndrome	Patent ductus arteriosus, Scoliosis, Kyphosis	ORPHA:392
Hereditary Pheochromocytoma-Paraganglioma	Weight loss, Vocal cord paralysis, Tremor	ORPHA:29072
Mucopolysaccharidosis Type 3	Optic atrophy, Splenomegaly, Abnormal mitral valve morphology, Abnormal aortic valve morphology, ...	ORPHA:581
Cole-Carpenter Syndrome	Hypotonia, Scoliosis, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:2050
Dyrk1A-Related Intellectual Disability Syndrome	Cerebral cortical atrophy, Small for gestational age, Failure to thrive, Abnormality of the cervi...	ORPHA:464306
Osteogenesis Imperfecta, Type Iii	Scoliosis, Kyphosis, Biconcave vertebral bodies	OMIM:259420
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Kyphosis, Scoliosis, Hyperlordosis, Generalized hypotonia	OMIM:617821
Meckel Syndrome 14	Aplasia of the uterus, Ambiguous genitalia, Single ventricle	OMIM:619879
Cole-Carpenter Syndrome 2	Platyspondyly, Hypotonia, Kyphosis	OMIM:616294
Koolen-De Vries Syndrome	Hypotonia, Vertebral segmentation defect, Vertebral fusion, Scoliosis, Kyphosis	ORPHA:96169
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Neonatal hypotonia, Impaired pain sensation, Decreased body weight, Scoliosis, Kyphosis	OMIM:619005
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s...	ORPHA:95430
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Scoliosis, Kyphosis	OMIM:615381
Progressive Non-Infectious Anterior Vertebral Fusion	Abnormality of the vertebral column, Hemivertebrae, Abnormal intervertebral disk morphology, Scol...	ORPHA:2062
Townes-Brocks Syndrome 2	Bifid uterus, Rectovaginal fistula, Hypospadias	OMIM:617466
Marfanoid Habitus With Situs Inversus	Scoliosis, Kyphosis	OMIM:609008
Absence Of The Pulmonary Artery	Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom...	ORPHA:980
Pituitary Adenoma 4, Acth-Secreting	Obesity, Biconcave vertebral bodies, Abdominal obesity, Vertebral compression fracture, Kyphosis	OMIM:219090
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hypotonia, Scoliosis, Kyphosis	OMIM:619951
Schinzel-Giedion Syndrome	Cerebral cortical atrophy, Spasticity, Failure to thrive in infancy, Ependymoma, Kyphoscoliosis, ...	ORPHA:798
Marden-Walker Syndrome	Abnormal form of the vertebral bodies, Failure to thrive, Hypotonia, Cerebellar hypoplasia, Abnor...	ORPHA:2461
Ogden Syndrome	Secundum atrial septal defect, Polycythemia, Decreased testicular size, Cryptorchidism, Patent fo...	OMIM:300855
Glycogen Storage Disease Ii	Hepatomegaly, Cardiomegaly, Splenomegaly	OMIM:232300
Distal Renal Tubular Acidosis	Paralysis, Failure to thrive	ORPHA:18
Cohen Syndrome	Failure to thrive in infancy, Hypotonia, Obesity, Scoliosis, Kyphosis	ORPHA:193
Dysostosis, Stanescu Type	Kyphosis, Short neck, Scoliosis, Hyperlordosis	ORPHA:1798
Hurler Syndrome	Hypoplasia of the odontoid process, Neurodegeneration, Biconcave vertebral bodies, Short neck, C1...	OMIM:607014
Koolen-De Vries Syndrome Due To A Point Mutation	Small for gestational age, Neonatal hypotonia, Cervical spinal canal stenosis, Speech apraxia, Sl...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Small for gestational age, Neonatal hypotonia, Cervical spinal canal stenosis, Speech apraxia, Sl...	ORPHA:363958
Multiple Endocrine Neoplasia, Type Iib	Generalized hypotonia, Failure to thrive in infancy, Hypotonia, Hyperlordosis, Scoliosis, Kyphosis	OMIM:162300
Thrombocytopenia-Absent Radius Syndrome	Tetralogy of Fallot, Atrioventricular canal defect, Hepatosplenomegaly, Leukocytosis, Ventricular...	OMIM:274000
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Scoliosis, Kyphosis	ORPHA:261190
Acro-Renal-Mandibular Syndrome	Butterfly vertebrae, Short neck, Hemivertebrae, Scoliosis, Kyphosis	ORPHA:958
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly	ORPHA:2463
Osteogenesis Imperfecta	Cervical kyphosis, Small for gestational age, Abnormal form of the vertebral bodies, Somatic sens...	ORPHA:666
Diets-Jongmans Syndrome	Gliosis, Generalized hypotonia	OMIM:618846
Familial Idiopathic Dilatation Of The Right Atrium	Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atrial septal dilatation, Right ventricular...	ORPHA:1677
Multiple Pterygium-Malignant Hyperthermia Syndrome	Hypotonia, Scoliosis, Kyphosis	ORPHA:2215
Cardiofacioneurodevelopmental Syndrome	Cerebellar vermis hypoplasia, Kyphosis	OMIM:619123
Hajdu-Cheney Syndrome	Chiari malformation, Failure to thrive, Hypoplastic 5th lumbar vertebrae, Biconcave vertebral bod...	ORPHA:955
Oeis Complex	Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute...	OMIM:258040
Congenital Heart Defects And Skeletal Malformations Syndrome	Scoliosis, Kyphosis, Failure to thrive	OMIM:617602
Mucopolysaccharidosis, Type Ii	Neurodegeneration, Short neck, Kyphosis	OMIM:309900
Aspartylglucosaminuria	Platyspondyly, Spondylolysis, Spasticity, Cerebral atrophy, Generalized hypotonia, Hypotonia, Spo...	OMIM:208400
Williams Syndrome	Spasticity, Chiari malformation, Ataxia, Patent ductus arteriosus, Atrophy/Degeneration involving...	ORPHA:904
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Scoliosis, Kyphosis, Vertebral segmentation defect	ORPHA:1005
Abetalipoproteinemia	Acanthocytosis, Reticulocytosis, Cardiomegaly, Hepatomegaly, Anemia	ORPHA:14
Classical-Like Ehlers-Danlos Syndrome Type 2	Impaired temperature sensation, Hypotonia, Thoracic scoliosis, Kyphoscoliosis, Kyphosis, Sacral d...	ORPHA:536532
Mucolipidosis Ii Alpha/Beta	Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Enlarged kidney	OMIM:252500
Paget Disease Of Bone 5, Juvenile-Onset	Hypotonia, Kyphosis, Failure to thrive	OMIM:239000
2Q31.1 Microdeletion Syndrome	Cerebral cortical atrophy, Hypotonia, Vertebral segmentation defect, Short neck, Scoliosis, Kyphosis	ORPHA:251014
Pontocerebellar Hypoplasia Type 7	Optic atrophy, Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of...	ORPHA:284339
Acth-Independent Macronodular Adrenal Hyperplasia	Kyphosis, Truncal obesity	OMIM:219080
Multiple Pterygium Syndrome, Escobar Variant	Anterior clefting of vertebral bodies, Short neck, Gait disturbance, Thoracolumbar scoliosis, Sco...	OMIM:265000
Pigmented Nodular Adrenocortical Disease, Primary, 2	Kyphosis, Truncal obesity	OMIM:610475
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Platyspondyly, Thoracolumbar kyphosis, Thoracic platyspondyly, Hypotonia, Thoracolumbar scoliosis...	OMIM:618019
Smith-Lemli-Opitz Syndrome	Abnormal form of the vertebral bodies, Hypotonia, Short neck, Aplasia/Hypoplasia of the cerebellu...	ORPHA:818
Spondyloperipheral Dysplasia	Platyspondyly, Short neck, Kyphosis, Ovoid vertebral bodies, Irregular vertebral endplates	OMIM:271700
Gitelman Syndrome	Paralysis, Paresthesia, Failure to thrive	ORPHA:358
Noonan Syndrome 14	Hypotonia, Short neck, Kyphosis	OMIM:619745
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hypotonia, Short neck, Hypertonia, Scoliosis, Kyphosis	OMIM:619194
Shprintzen Omphalocele Syndrome	Generalized hypotonia, Hypotonia, Lumbar hyperlordosis, Decreased body weight, Scoliosis, Kyphosis	OMIM:182210
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Platyspondyly, Lumbar hyperlordosis, Kyphosis	OMIM:616482
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Bohring-Opitz Syndrome	Cardiomegaly, Optic atrophy, Abnormal cardiac septum morphology	ORPHA:97297
Mucolipidosis Type Ii	Inability to walk, Appendicular hypotonia, Weight loss, Kyphosis, Axial hypotonia	ORPHA:576
Hurler-Scheie Syndrome	Scoliosis, Kyphosis	OMIM:607015
Mosaic Trisomy 20	Spinal canal stenosis, Hypotonia, Vertebral segmentation defect, Infantile muscular hypotonia, Ve...	ORPHA:1724
1P36 Deletion Syndrome	Cerebral cortical atrophy, Failure to thrive, Spinal canal stenosis, Obesity, Hypotonia, Hemipleg...	ORPHA:1606
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in females, Decreased testicular size, Ambig...	ORPHA:90794
Congenital Total Pulmonary Venous Return Anomaly	Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous...	ORPHA:99125
Liver Disease, Severe Congenital	Dilatation of the ventricular cavity, Leukopenia, Splenomegaly, Patent foramen ovale, Ventricular...	OMIM:619991
Microphthalmia, Lenz Type	Kyphosis, Scoliosis, Hyperlordosis	ORPHA:568
Tropical Endomyocardial Fibrosis	Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Right ventricular car...	ORPHA:75565
Tyrosinemia, Type I	Periodic paralysis, Failure to thrive	OMIM:276700
Mucolipidosis Iii Alpha/Beta	Kyphosis, Scoliosis, Spondylolisthesis	OMIM:252600
Okamoto Syndrome	Aortic valve stenosis, Abnormal heart morphology, Abnormal left ventricle morphology, Splenomegal...	ORPHA:2729
Exstrophy-Epispadias Complex	Penoscrotal transposition, Bifid scrotum, Abnormal heart morphology, Cystocele, Cryptorchidism, B...	ORPHA:322
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Campomelic Dysplasia	Short neck, Scoliosis, Kyphosis, Poorly ossified cervical vertebrae	ORPHA:140
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Lumbar hyperlordosis, Intervertebral space narrowing, Narrow vertebral interpedicular distance, K...	OMIM:143095
Yunis-Varon Syndrome	Clitoral hypertrophy, Cardiomyopathy, Tetralogy of Fallot, Cryptorchidism, Ventricular septal def...	ORPHA:3472
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Hypotonia, Scoliosis, Kyphosis	OMIM:619557
Genitopalatocardiac Syndrome	Scoliosis, Kyphosis	ORPHA:2075
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Cardiomegaly, Bicuspid aortic valve	ORPHA:91387
Osteoporosis-Pseudoglioma Syndrome	Platyspondyly, Hypotonia, Biconcave vertebral bodies, Kyphoscoliosis, Severe platyspondyly, Verte...	OMIM:259770
Pigmented Nodular Adrenocortical Disease, Primary, 1	Kyphosis, Truncal obesity	OMIM:610489
16Q24.3 Microdeletion Syndrome	Scoliosis, Kyphosis	ORPHA:261250
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Kyphosis, Short neck, Hemivertebrae, Scoliosis, Patent ductus arteriosus	OMIM:618223
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Scoliosis, Kyphosis, Hemiplegia/hemiparesis	ORPHA:394
Pseudoxanthoma Elasticum, Forme Fruste	Scoliosis, Kyphosis	OMIM:177850
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina	OMIM:271520
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hypotonia, Kyphosis	OMIM:616914
Neurofibromatosis Type 1	Paresthesia, Astrocytoma, Optic nerve glioma, Ataxia, Scoliosis, Kyphosis	ORPHA:636
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Difficulty walking, Hypotonia, Scoliosis, Kyphosis	OMIM:619482
Robinow Syndrome, Autosomal Dominant 3	Kyphosis, Short neck, Scoliosis, Patent ductus arteriosus, Sacral dimple	OMIM:616894
Osteogenesis Imperfecta, Type Iv	Biconcave flattened vertebrae, Scoliosis, Kyphosis	OMIM:166220
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy	ORPHA:365
Beckwith-Wiedemann Syndrome	Visceromegaly, Polycythemia, Hypertrophic cardiomyopathy, Splenomegaly, Cryptorchidism, Cardiomeg...	ORPHA:116
Stickler Syndrome	Platyspondyly, Abnormal form of the vertebral bodies, Spinal canal stenosis, Slender build, Hypot...	ORPHA:828
Pineoblastoma	Paralysis	ORPHA:251909
Osteopetrosis, Autosomal Recessive 3	Periodic hypokalemic paresis	OMIM:259730
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Aplasia of the vagina, Optic nerve hypoplasia	ORPHA:457284
Acrofacial Dysostosis, Cincinnati Type	Failure to thrive, Laryngeal dystonia, Abnormality of coordination, Hypotonia, Myoclonus, Decreas...	OMIM:616462
Tsh-Secreting Pituitary Adenoma	Weight loss, Periodic hypokalemic paresis, Tremor	ORPHA:91347
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Abnormal form of the vertebral bodies, Posterior scalloping of vertebral bodies, Gait disturbance...	ORPHA:3042
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia, Scoliosis, Kyphosis	ORPHA:1969
Proteasome-Associated Autoinflammatory Syndrome 1	Microcytic anemia, Splenomegaly, Cardiomegaly, Thrombocytopenia, Hepatomegaly, Epididymitis	OMIM:256040
Fanconi Anemia, Complementation Group L	Anemia, Aplasia of the uterus, Micropenis	OMIM:614083
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal vertebral morphology, Platyspondyly, Cerebral cortical atrophy, Abnormality of the verte...	ORPHA:2273
Coffin-Siris Syndrome 1	Hypotonia, Gait ataxia, Patent ductus arteriosus, Dandy-Walker malformation, Spina bifida occulta...	OMIM:135900
Chromosome Xq26.3 Duplication Syndrome	Kyphosis	OMIM:300942
Frank-Ter Haar Syndrome	Hypotonia, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Prominent coccyx, Kyphosis	OMIM:249420
Chromosome 17Q12 Deletion Syndrome	Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus	OMIM:614527
Osteogenesis Imperfecta, Type Viii	Platyspondyly, Vertebral compression fracture, Scoliosis, Kyphosis	OMIM:610915
Hydrolethalus Syndrome 1	Accessory spleen, Abnormal vagina morphology, Complete atrioventricular canal defect, Ventricular...	OMIM:236680
Oculocerebrorenal Syndrome Of Lowe	Platyspondyly, Failure to thrive, Neonatal hypotonia, Clonus, Scoliosis, Kyphosis	ORPHA:534
Phocomelia, Schinzel Type	Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism	ORPHA:2879
Sotos Syndrome	Abnormal vertebral morphology, Cerebellar vermis hypoplasia, Cerebral atrophy, Hypotonia, Tremor,...	ORPHA:821
Alkaptonuria	Low back pain, Vertebral fusion, Kyphosis, Intervertebral disk degeneration	OMIM:203500
Intellectual Developmental Disorder, X-Linked 112	Scoliosis, Kyphosis, Kyphoscoliosis	OMIM:301111
Autosomal Recessive Robinow Syndrome	Vertebral segmentation defect, Short neck, Scoliosis, Kyphosis, Sacral dimple	ORPHA:1507
Alstrom Syndrome	Obesity, Scoliosis, Kyphosis, Truncal obesity	OMIM:203800
Ehlers-Danlos Syndrome, Vascular Type	Uterine rupture, Cystocele, Cryptorchidism, Mitral valve prolapse, Uterine prolapse, Anemia, Cerv...	OMIM:130050
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Bifid uterus	ORPHA:1521
Spondyloarthropathy, Susceptibility To, 1	Sacroiliac arthritis, Kyphosis, Back pain	OMIM:106300
Acromegaly	Paresthesia, Spinal canal stenosis, Kyphosis, Cerebral palsy	ORPHA:963
Familial Osteodysplasia, Anderson Type	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2769
Somatomammotropinoma	Paresthesia, Spinal canal stenosis, Kyphosis, Cerebral palsy	ORPHA:314769
Lymphedema-Distichiasis Syndrome	Patent ductus arteriosus, Kyphosis	OMIM:153400
Cdags Syndrome	Kyphosis	OMIM:603116
Wolf-Hirschhorn Syndrome	Accessory spleen, Precocious puberty, Cryptorchidism, Ventricular septal defect, Aplasia of the u...	OMIM:194190
17Q11 Microdeletion Syndrome	Glioma, Abnormality of the vertebral column, Beaking of vertebral bodies T12-L3, Abnormal central...	ORPHA:97685
Marfan Syndrome	Slender build, Hypotonia, Spondylolisthesis, Cachexia, Scoliosis, Kyphosis	ORPHA:558
Townes-Brocks Syndrome 1	Bifid scrotum, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Atrial septal defe...	OMIM:107480
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis	OMIM:609944
Primrose Syndrome	Kyphosis, Neurodegeneration, Hypotonia, Truncal obesity, Ataxia, Posterior scalloping of vertebra...	OMIM:259050
Limb-Mammary Syndrome	Aplasia of the uterus, Aplasia of the ovary	ORPHA:69085
Neu-Laxova Syndrome 1	Cryptorchidism, Patent foramen ovale, Ventricular septal defect, Transposition of the great arter...	OMIM:256520
Ramon Syndrome	Scoliosis, Kyphosis, Decreased body weight	OMIM:266270
Cleidocranial Dysplasia 1	Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis	OMIM:119600
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Scoliosis, Kyphosis	OMIM:619718
Lowe Oculocerebrorenal Syndrome	Platyspondyly, Neonatal hypotonia, Failure to thrive, Hypotonia, Scoliosis, Kyphosis	OMIM:309000
Coffin-Lowry Syndrome	Hypotonia, Decreased body weight, Lumbar kyphosis, Scoliosis, Kyphosis	OMIM:303600
Lenz-Majewski Hyperostotic Dwarfism	Hypotonia, Scoliosis, Kyphosis	ORPHA:2658
Poland Syndrome	Vertebral segmentation defect, Short neck, Hemivertebrae, Spina bifida occulta, Scoliosis, Kyphosis	ORPHA:2911
Occipital Horn Syndrome	Platyspondyly, Hypotonia, Scoliosis, Kyphosis	ORPHA:198
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Lumbar hyperlordosis, Kyphosis	ORPHA:2232
Spondyloepimetaphyseal Dysplasia, X-Linked	Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Anterior wedging of T11,...	OMIM:300106
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Kyphosis	ORPHA:85199
Turner Syndrome Due To Structural X Chromosome Anomalies	Failure to thrive in infancy, Obesity, Short neck, Scoliosis, Kyphosis	ORPHA:99413
Mosaic Monosomy X	Failure to thrive in infancy, Obesity, Short neck, Scoliosis, Kyphosis	ORPHA:99228
Monosomy X	Failure to thrive in infancy, Obesity, Short neck, Scoliosis, Kyphosis	ORPHA:99226
Turner Syndrome	Failure to thrive in infancy, Obesity, Short neck, Scoliosis, Kyphosis	ORPHA:881
Occipital Horn Syndrome	Platyspondyly, Kyphosis	OMIM:304150
Wrinkly Skin Syndrome	Hypotonia, Scoliosis, Kyphosis, Failure to thrive	OMIM:278250
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Mitral valve calcification, Subv...	OMIM:182250
Generalized Arterial Calcification Of Infancy	Cardiomegaly, Ventricular hypertrophy, Pericardial effusion, Myocardial calcification	ORPHA:51608
Cerebrocostomandibular Syndrome	Kyphosis	ORPHA:1393
Yunis-Varon Syndrome	Cerebellar vermis hypoplasia, Kyphosis, Failure to thrive in infancy, Hypotonia, Anterior concavi...	OMIM:216340
Vascular Ehlers-Danlos Syndrome	Uterine rupture, Abnormal heart valve morphology, Cystocele, Cryptorchidism, Mitral valve prolaps...	ORPHA:286
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genitalia, Hypospadias	OMIM:276820
Viss Syndrome	Kyphosis, Failure to thrive, Hypotonia, Butterfly vertebrae, Scoliosis, Patent ductus arteriosus	OMIM:619472
Pallister-Killian Syndrome	Aortic valve stenosis, Small scrotum, Hypertrophic cardiomyopathy, Cryptorchidism, Ventricular se...	OMIM:601803
Proteus Syndrome	Abnormal form of the vertebral bodies, Cachexia, Scoliosis, Kyphosis	ORPHA:744
Branchiooculofacial Syndrome	Agenesis of cerebellar vermis, Short neck, Kyphosis, Hyperlordosis	OMIM:113620
Norrie Disease	Optic atrophy, Uterine rupture, Cryptorchidism	ORPHA:649
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030
Alström Syndrome	Somatic sensory dysfunction, Incoordination, Obesity, Thoracic scoliosis, Lumbar scoliosis, Trunc...	ORPHA:64
Genetic Steroid-Resistant Nephrotic Syndrome		ORPHA:656

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ankfy1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ankfy1.

No publications found that use IMPC mice or data for Ankfy1.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Ankfy1^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Ankfy1^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells
Ankfy1^{tm1b(KOMP)Mbp}	Reporter-tagged deletion allele (with selection cassette)	Mice, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Ankfy1 MGI:1337008

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Adult LacZ

X-ray

Embryo LacZ

X-ray

Gross Morphology Embryo E9.5

Human diseases caused by Ankfy1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data